Reference Detail

Filtering

Case insensitive filtering will display rows if any text in any cell matches the filter term
Use simple literal full or partial string matches
Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
Click on any column header arrows to sort by that column
Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile	Treatment Approach
ABL1 rearrange	ABL Inhibitor (pan)

Gene Name	Source	Synonyms	Protein Domains	Gene Description	Gene Role

Therapy Name	Drugs	Efficacy Evidence	Clinical Trials

Drug Name	Trade Name	Synonyms	Drug Classes	Drug Description

Gene	Variant	Impact	Protein Effect	Variant Description	Associated with drug Resistance

Molecular Profile	Indication/Tumor Type	Response Type	Therapy Name	Approval Status	Evidence Type	Efficacy Evidence	References
CD274 positive	lung squamous cell carcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Combination Opdivo (nivolumab) plus Yervoy (ipilimumab) is in guidelines as first-line or continuation maintenance therapy for advanced or metastatic lung squamous cell carcinoma patients with CD274 (PD-L1) expression >1% and negative for actionable molecular biomarkers (NCCN.org).	detail...
PMS2 negative	stomach cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
MSH2 negative	vulva adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva adenocarcinoma (NCCN.org).	detail...
PMS2 negative	endometrial carcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).	detail...
RET V804M RET E805K	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Compound germline RET V804M and E805K mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
MLH1 negative	papillary thyroid carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with papillary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
IDH2 mutant	acute myeloid leukemia	sensitive	Decitabine + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).	detail...
PIK3CA mutant	Erdheim-Chester disease	sensitive	Sirolimus	Guideline	Actionable	Rapamune (sirolimus) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring PIK3CA mutations (NCCN.org).	detail...
BRAF V600X	skin melanoma	sensitive	Dabrafenib	Guideline	Actionable	Tafinlar (dabrafenib) therapy is included in guidelines for patients with unresectable or metastatic cutaneous melanoma harboring BRAF V600 activating mutations, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).	detail...
JAK3 rearrange	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK3 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
FLT3 exon20	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
KIT act mut	skin melanoma	sensitive	Imatinib	Guideline	Actionable	Gleevec (imatinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).	detail...
MSH2 negative	small intestine adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CBL mutant	systemic mastocytosis	not applicable	N/A	Guideline	Prognostic	CBL mutations are associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org).	detail...
MLH1 negative	penile cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as subsequent-line systemic therapy for metastatic/recurrent penile cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	chondrosarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chondrosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	Squamous Cell Carcinoma of Unknown Primary	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with squamous cell carcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
POLE inact mut	colon cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLE inactivating mutations (NCCN.org).	detail...
CBL mutant	myelofibrosis	not applicable	N/A	Guideline	Prognostic	CBL mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org).	detail...
IDH1 mutant	myelofibrosis	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org).	detail...
BRAF V600E	follicular thyroid carcinoma	sensitive	Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid follicular carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (NCCN.org).	detail...
CD274 positive	cervical cancer	sensitive	Paclitaxel + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) combined with Taxol (paclitaxel) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).	detail...
PMS2 negative	bone cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a systemic therapy for patients with unresectable or metastatic bone cancer with high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET fusion	neuroendocrine tumor	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms harboring RET fusions who have progressed on or following prior treatment (NCCN.org).	detail...
PMS2 negative	medullary thyroid carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with medullary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
BRAF V600E	skin melanoma	sensitive	Atezolizumab + Cobimetinib + Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) plus Cotellic (cobimetinib) in combination with an immune checkpoint inhibitor, such as Tecentriq (atezolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600E (NCCN.org).	detail...
RET V804M RET Y806C	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Compound germline RET V804M and Y806C mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
RET fusion	hepatocellular carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hepatocellular carcinoma harboring RET fusions (NCCN.org).	detail...
RET fusion	vaginal carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma harboring an RET fusion (NCCN.org).	detail...
FGFR1 rearrange	myeloid and lymphoid neoplasms associated with FGFR1 abnormalities	sensitive	Ponatinib	Guideline	Actionable	Iclusig (ponatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an FGFR1 rearrangement (NCCN.org).	detail...
IDH2 mutant	myelofibrosis	not applicable	N/A	Guideline	Prognostic	IDH2 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org).	detail...
BRAF V600E	Erdheim-Chester disease	sensitive	Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring BRAF V600E (NCCN.org).	detail...
PMS2 negative	ovarian germ cell cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as recurrence therapy for patients with malignant ovarian germ cell tumors with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ATM mutant	ovarian cancer	not applicable	N/A	Guideline	Risk Factor	Germline ATM mutations are associated with increased risk of developing ovarian cancer (NCCN.org).	detail...
MSH2 mutant	ovarian cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org).	detail...
KMT2A rearrange	T-cell acute lymphoblastic leukemia	sensitive	Revumenib	Guideline	Actionable	Revuforj (revumenib) is included in guidelines for patients with relapsed or refractory T-cell acute lymphoblastic leukemia harboring a KMT2A rearrangement (NCCN.org).	detail...
RET fusion	esophagus adenocarcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic esophageal adenocarcinoma harboring RET fusions (NCCN.org).	detail...
MLH1 negative	bone cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a systemic therapy for patients with unresectable or metastatic bone cancer with high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
JAK2 mutant	essential thrombocythemia	not applicable	N/A	Guideline	Diagnostic	JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org).	detail...
RET Y791X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET Y791X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
CTNNB1 mutant	medulloblastoma	not applicable	N/A	Guideline	Prognostic	WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org).	detail...
CD274 positive	cervical cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as second-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).	detail...
BRAF wild-type	colon cancer	predicted - sensitive	Panitumumab	Guideline	Actionable	Vectibix (panitumumab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic colon cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).	detail...
MSH6 negative	esophagus adenocarcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	esophagus adenocarcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	rectum cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET fusion	ovary epithelial cancer	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer harboring a RET fusion (NCCN.org).	detail...
MSH2 negative	osteosarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic osteosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	small intestine adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	stomach cancer	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer harboring BRAF V600E (NCCN.org).	detail...
MSH2 negative	prostate adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with advanced or metastatic prostate adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600X	skin melanoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as neoadjuvant or adjuvant therapy for stage III disease and as second-line or subsequent therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation (NCCN.org).	detail...
MSH6 negative	ampulla of Vater adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E/K	skin melanoma	sensitive	Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in cutaneous melanoma guidelines for patients with metastatic or unresectable disease harboring a BRAF V600 activating mutation (NCCN.org).	detail...
FLT3 rearrange	myeloid neoplasm	sensitive	Sunitinib	Guideline	Actionable	Sutent (sunitinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).	detail...
KIT act mut	skin melanoma	sensitive	Dasatinib	Guideline	Actionable	Sprycel (dasatinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).	detail...
MSH6 negative	endometrial carcinoma	sensitive	Avelumab	Guideline	Actionable	Bavencio (avelumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Carboplatin + Durvalumab + Nab-paclitaxel + Tremelimumab	Guideline	Actionable	Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).	detail...
ALK rearrange ALK L1196M ALK G1202R	lung non-small cell carcinoma	resistant	Lorlatinib	Guideline	Actionable	Lorbrena (lorlatinib) is not indicated for use as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer harboring ALK L1196M and G1202R compound mutations (NCCN.org).	detail...
MSH2 negative	ampulla of Vater adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 mutant	pancreatic cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in PMS2 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).	detail...
KMT2A rearrange	acute myeloid leukemia	sensitive	Revumenib	Guideline	Actionable	Revuforj (revumenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a KMT2A rearrangement (NCCN.org).	detail...
BRAF V600E	anaplastic oligodendroglioma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic oligodendroglioma (NCCN.org).	detail...
MSH6 negative	small intestine adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 mutant	myelodysplastic syndrome	sensitive	Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) with or without Vidaza (azacitidine) is included in guidelines (category 2B) for patients with myelodysplastic syndrome harboring an IDH1 mutation (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Carboplatin + Ipilimumab + Nivolumab + Pemetrexed Disodium	Guideline	Actionable	Combination Paraplatin (carboplatin), Alimta (pemetrexed), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
FLT3 exon19	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
ALK rearrange	anaplastic large cell lymphoma	not applicable	N/A	Guideline	Prognostic	The presence of ALK rearrangement is associated with a favorable prognosis in patients with anaplastic large cell lymphoma (NCCN.org).	detail...
ALK fusion	Erdheim-Chester disease	sensitive	Lorlatinib	Guideline	Actionable	Lorbrena (lorlatinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).	detail...
MLH1 negative	ovarian germ cell cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as recurrence therapy for patients with malignant ovarian germ cell tumors with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	cervical cancer	sensitive	Cisplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) combined with Platinol (cisplatin) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).	detail...
PMS2 negative	esophagus adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Obinutuzumab	Guideline	Actionable	Gazyva (obinutuzumab) is indicated in the guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
MLH1 negative	sarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for soft tissue sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), regardless of sarcoma sub-type (NCCN.org).	detail...
PMS2 negative	gallbladder cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).	detail...
KMT2A rearrange	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Diagnostic	KMT2A rearrangements (t(v;11q23.3)) aid in the diagnosis of B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
FLT3 exon14	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Atezolizumab + Bevacizumab + Carboplatin + Paclitaxel	Guideline	Actionable	Combination Paraplatin (carboplatin), Taxol (paclitaxel), Avastin (bevacizumab), and Tecentriq (atezolizumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
ALK rearrange ALK G1202R	lung non-small cell carcinoma	sensitive	Lorlatinib	Guideline	Actionable	Lorbrena (lorlatinib) is included in guidelines as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer harboring ALK G1202R (NCCN.org).	detail...
FLT3 exon17	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
IDH1 mutant	acute myeloid leukemia	sensitive	Decitabine + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).	detail...
MLH1 negative	pancreatic adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) with good (ECOG 0-1), intermediate (ECOG 2) (category 2A), or poor (ECOG 3) (category 2B) performance status who have not received prior immunotherapy (NCCN.org).	detail...
MSH6 negative	small intestine adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	osteosarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic osteosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 mutant	myelodysplastic syndrome	sensitive	Olutasidenib	Guideline	Actionable	Rezlidhia (olutasidenib) with or without Vidaza (azacitidine) is included in guidelines (category 2B) for patients with myelodysplastic syndrome harboring an IDH1 mutation (NCCN.org).	detail...
MSH6 negative	Squamous Cell Carcinoma of Unknown Primary	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with squamous cell carcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 mutant	angioimmunoblastic T-cell lymphoma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Rituximab + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
MSH2 negative	papillary thyroid carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with papillary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
MLH1 negative	endometrial carcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).	detail...
DNMT3A mutant	myelofibrosis	not applicable	N/A	Guideline	Prognostic	DNMT3A mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org).	detail...
PMS2 negative	esophagus adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal adenocarcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
PMS2 negative	neuroendocrine tumor	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) locally advanced or metastatic well-differentiated, Grade 3 neuroendocrine tumors or unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms who have progressed on or following prior treatment (NCCN.org).	detail...
FGFR1 rearrange	myeloid and lymphoid neoplasms associated with FGFR1 abnormalities	sensitive	Pemigatinib	Guideline	Actionable	Pemazyre (pemigatinib) is included in guidelines (category 2A) for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an FGFR1 rearrangement (NCCN.org).	detail...
STK11 mutant	breast cancer	not applicable	N/A	Guideline	Risk Factor	Germline STK11 mutations are associated with increased risk of developing breast cancer (NCCN.org).	detail...
MSH2 negative	gastroesophageal junction adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PIK3CA mutant	Erdheim-Chester disease	sensitive	Cobimetinib	Guideline	Actionable	Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).	detail...
FGFR2 rearrange	cholangiocarcinoma	sensitive	Pemigatinib	Guideline	Actionable	Pemazyre (pemigatinib) is included in guidelines as subsequent-line therapy for patients with cholangiocarcinoma harboring FGFR2 fusions or rearrangements (NCCN.org).	detail...
CD274 positive	esophageal cancer	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS <10 (category 2B) (NCCN.org).	detail...
MSH2 negative	ovary epithelial cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
CD274 positive	triple-receptor negative breast cancer	sensitive	Paclitaxel + Pembrolizumab	Guideline	Actionable	Combination of Keytruda (pembrolizumab) and Taxol (paclitaxel) is included in guidelines for patients with recurrent or metastatic CD274 (PD-L1)-positive (CPS >or= 10) triple-receptor negative breast cancer (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Atezolizumab + Bevacizumab + Carboplatin + Paclitaxel	Guideline	Actionable	Combination Paraplatin (carboplatin), Taxol (paclitaxel), Avastin (bevacizumab), and Tecentriq (atezolizumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of greater than or equal to 1% and negative for actionable molecular biomarkers (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Atezolizumab + Carboplatin + Nab-paclitaxel	Guideline	Actionable	Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), and Tecetriq (atezolizumab) is in guidelines as first-line therapy for patients with large cell lung cancer with CD274 (PD-L1) expression of greater than or equal to 1%, and negative status for EGFR, ALK, ROS1, BRAF, RET, and MET exon 14 skipping mutations (NCCN.org).	detail...
MLH1 negative	ovary epithelial cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF wild-type	rectum cancer	predicted - sensitive	Panitumumab	Guideline	Actionable	Vectibix (panitumumab) is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).	detail...
JAK1 rearrange	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK1 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
MLH1 negative	esophagus adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal adenocarcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
BRAF V600K	skin melanoma	sensitive	Binimetinib + Encorafenib	Guideline	Actionable	Braftovi (encorafenib) in combination with Mektovi (binimetinib) is included in guidelines as first-line and second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org).	30959471 detail...
PMS2 negative	esophagus squamous cell carcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
KMT2A rearrange	B-cell acute lymphoblastic leukemia	sensitive	Revumenib	Guideline	Actionable	Revuforj (revumenib) is included in guidelines for patients with relapsed or refractory B-cell acute lymphoblastic leukemia harboring a KMT2A rearrangement (NCCN.org).	detail...
MLH1 negative	small intestine adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	pilocytic astrocytoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines as an adjuvant treatment for patients with pilocytic astrocytoma harboring BRAF V600E (NCCN.org).	detail...
FLT3 exon18	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MLH1 negative	rectum cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a preferred primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	small intestine adenocarcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	esophagus squamous cell carcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 mutant	acute myeloid leukemia	sensitive	Olutasidenib	Guideline	Actionable	Rezlidhia (olutasidenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).	detail...
MSH6 negative	stomach cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in the guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MLH1 negative	stomach cancer	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	ampulla of Vater adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	sensitive	Ceritinib	Guideline	Actionable	Zykadia (ceritinib) is included in guidelines as first-line and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (NCCN.org).	detail...
MSH2 negative	Adenocarcinoma of Unknown Primary	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 act mut	oligodendroglioma	sensitive	Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) is included in guidelines for patients with oligodendroglioma harboring an IDH1 activating mutation (NCCN.org).	detail...
ABL1 rearrange	myeloid neoplasm	sensitive	Dasatinib	Guideline	Actionable	Sprycel (dasatinib) is included in guidelines as a preferred regimen for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (NCCN.org).	detail...
VHL inact mut	hemangioblastoma	sensitive	Belzutifan	Guideline	Actionable	Welireg (belzutifan) is included in guidelines for patients with Von Hippel-Lindau disease-associated CNS hemangioblastoma that do not require immediate surgery (NCCN.org).	detail...
KIT act mut	gastrointestinal stromal tumor	not applicable	N/A	Guideline	Diagnostic	KIT activating mutations aid the diagnosis of gastrointestinal stromal tumor (NCCN.org).	detail...
PMS2 negative	chordoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chordoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	gastroesophageal junction adenocarcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Cisplatin + Ipilimumab + Nivolumab + Pemetrexed Disodium	Guideline	Actionable	Combination Platinol (cisplatin), Alimta (pemetrexed), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
PMS2 negative	colon cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 over exp	lung non-small cell carcinoma	sensitive	Cemiplimab	Guideline	Actionable	Libtayo (cemiplimab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers; and as continued maintenance therapy (NCCN.org).	detail...
FLT3 exon20	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH2 negative	colon cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	vulva adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva adenocarcinoma (NCCN.org).	detail...
BRAF V600E	lung non-small cell carcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines as a first-line or subsequent therapy for advanced or metastatic non-small cell lung cancer patients harboring BRAF V600E mutations (NCCN.org).	detail...
MLH1 negative	esophagus squamous cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal squamous cell carcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Carboplatin + Durvalumab + Nab-paclitaxel + Tremelimumab	Guideline	Actionable	Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).	detail...
MSH6 negative	vulva adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva adenocarcinoma (NCCN.org).	detail...
POLD1 inact mut	rectum cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLD1 inactivating mutations (NCCN.org).	detail...
FGFR2 rearrange	cholangiocarcinoma	sensitive	Futibatinib	Guideline	Actionable	Lytgobi (futibatinib) is included in guidelines as subsequent-line therapy (category 2A) for patients with cholangiocarcinoma harboring an FGFR2 fusion or rearrangement (NCCN.org).	detail...
PMS2 mutant	endometrial cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in PMS2 result in Lynch syndrome, which is associated with increased risk of developing endometrial cancer (NCCN.org).	detail...
JAK2 rearrange	myeloid neoplasm	sensitive	Fedratinib	Guideline	Actionable	Inrebic (fendratinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a JAK2 rearrangement (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Carboplatin + Cemiplimab + Paclitaxel	Guideline	Actionable	Combination Paraplatin (carboplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
NRAS exon3	rectum cancer	resistant	Cetuximab	Guideline	Actionable	Erbitux (cetuximab) is not indicated for use in rectum cancer patients with NRAS exon 3 mutations (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Idelalisib + Rituximab	Guideline	Actionable	Zydelig (idelalisib) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Cemiplimab + Cisplatin + Paclitaxel	Guideline	Actionable	Combination Platinol (cisplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
BRAF V600E	ovary epithelial cancer	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer harboring BRAF V600E (NCCN.org).	detail...
FLT3 rearrange	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	FLT3 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
BRAF V600E	rectum cancer	sensitive	Encorafenib + Panitumumab	Guideline	Actionable	Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines as primary or subsequent therapy for patients with rectal cancer harboring BRAF V600E (NCCN.org).	detail...
MLH1 negative	stomach cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced or metastatic gastric cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	esophagus adenocarcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	rectum cancer	sensitive	Cetuximab + Encorafenib	Guideline	Actionable	Braftovi (encorafenib) in combination with Erbitux (cetuximab) is included in guidelines as primary or subsequent therapy for patients with rectal cancer harboring BRAF V600E (NCCN.org).	detail...
TP53 mutant	essential thrombocythemia	not applicable	N/A	Guideline	Prognostic	TP53 mutations are associated with inferior leukemia-free survival in patients with essential thrombocythemia (NCCN.org).	detail...
JAK2 rearrange	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK2 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
BRAF V600E	extrahepatic bile duct carcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as subsequent-line therapy for patients with biliary cancer harboring BRAF V600E, including extrahepatic cholangiocarcinoma (NCCN.org).	detail...
MSH6 negative	intrahepatic cholangiocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Idelalisib	Guideline	Actionable	Zydelig (idelalisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
STK11 mutant	stomach cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in STK11 result in Peutz Jeghers syndrome, which is associated with increased risk of developing gastric cancer (NCCN.org).	detail...
PMS2 negative	penile cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as subsequent-line systemic therapy for metastatic/recurrent penile cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Carboplatin + Ipilimumab + Nivolumab + Pemetrexed Disodium	Guideline	Actionable	Combination Paraplatin (carboplatin), Alimta (pemetrexed), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Cytarabine + Quizartinib	Guideline	Actionable	Vanflyta (quizartinib) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MSH2 negative	medullary thyroid carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with medullary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
BRAF V600E	ampulla of Vater adenocarcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as first-line therapy with good (ECOG 0-1; category 3) or poor (category 2B) performance status, or as subsequent therapy, for metastatic ampullary adenocarcinoma patients harboring BRAF V600E (NCCN.org).	detail...
IDH2 mutant	anaplastic astrocytoma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Pirtobrutinib	Guideline	Actionable	Jaypirca (pirtobrutinib) is included in guidelines as second-line or third-line therapy for patients with chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss and for patients with relapsed or refractory disease after prior BTK inhibitor and Venclexta (venetoclax)-based therapy (NCCN.org).	detail...
JAK3 rearrange	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK3 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
CD274 positive	vaginal carcinoma	sensitive	Carboplatin + Paclitaxel + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with Paraplatin (carboplatin) and Taxol (paclitaxel) is included in guidelines as preferred first-line therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma with CD274 (PD-L1) expression (CPS >/= 1) (NCCN.org).	detail...
FLT3 mutant	acute myeloid leukemia	sensitive	Azacitidine + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) in combination with Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring a FLT3 mutation (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Venetoclax	Guideline	Actionable	Venclexta (venetoclax) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
PMS2 mutant	rectum cancer	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org).	detail...
BRAF fusion	skin melanoma	sensitive	Trametinib	Guideline	Actionable	Mekinist (trametinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with BRAF fusions (NCCN.org).	detail...
ALK rearrange	anaplastic large cell lymphoma	sensitive	Alectinib	Guideline	Actionable	Alecensa (alectinib) is included in guidelines as second-line and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Combination Opdivo (nivolumab) plus Yervoy (ipilimumab) is in guidelines as first-line or continuation maintenance therapy for advanced or metastatic large cell lung cancer patients with CD274 (PD-L1) expression >1% and negative for actionable molecular biomarkers (NCCN.org).	detail...
BRAF V600E	follicular thyroid carcinoma	sensitive	Dabrafenib	Guideline	Actionable	Tafinlar (dabrafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid follicular carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (NCCN.org).	detail...
PIK3CA mutant	Erdheim-Chester disease	sensitive	Everolimus	Guideline	Actionable	Afinitor (everolimus) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring PIK3CA mutations (NCCN.org).	detail...
FLT3 exon19	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
PMS2 negative	vulva squamous cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva squamous cell carcinoma (NCCN.org).	detail...
ABL1 rearrange	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	ABL1 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Cisplatin + Durvalumab + Pemetrexed Disodium + Tremelimumab	Guideline	Actionable	Combination Platinol (cisplatin), Alimta (pemetrexed disodium), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).	detail...
ALK rearrange	inflammatory myofibroblastic tumor	sensitive	Crizotinib	Guideline	Actionable	Xalkori (crizotinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).	detail...
FLT3 rearrange	myeloid neoplasm	sensitive	Sorafenib	Guideline	Actionable	Nexavar (sorafenib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).	detail...
MSH2 negative	stomach cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced or metastatic gastric cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 mutant	myelofibrosis	not applicable	N/A	Guideline	Prognostic	IDH1 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org).	detail...
BRAF V600E	Squamous Cell Carcinoma of Unknown Primary	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with squamous cell carcinoma of unknown primary harboring BRAF V600E (NCCN.org).	detail...
MLH1 negative	ampulla of Vater adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FGFR3 act mut	lung non-small cell carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	sensitive	Brigatinib	Guideline	Actionable	Alunbrig (brigatinib) is included in guidelines as preferred first-line and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (NCCN.org).	detail...
IDH1 mutant	acute myeloid leukemia	sensitive	Cytarabine + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).	detail...
BRAF V600E	lung non-small cell carcinoma	sensitive	Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) is included in guidelines as a first-line therapy for advanced or metastatic non-small cell lung cancer patients harboring BRAF V600E mutations who can not tolerate the combination of Mekinist (trametinib) and Tafinlar (dabrafenib) (NCCN.org).	detail...
FLT3 exon20	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
BRAF V600E	low grade glioma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent or progressive low grade glioma harboring BRAF V600E (NCCN.org).	detail...
BRAF V600E	lung non-small cell carcinoma	sensitive	Dabrafenib	Guideline	Actionable	Tafinlar (dabrafenib) is in guidelines as a first-line therapy for patients with advanced or metastatic non-small cell lung cancer with BRAF V600E mutations who can not tolerate the combination of Mekinist (trametinib) and Tafinlar (dabrafenib) (NCCN.org).	detail...
FLT3 exon15	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
NRAS exon4	colon cancer	resistant	Panitumumab	Guideline	Actionable	Vectibix (panitumumab) is not indicated for use in colon cancer patients with NRAS exon 4 mutations (NCCN.org).	detail...
TP53 mutant	breast cancer	not applicable	N/A	Guideline	Risk Factor	Germline TP53 mutations result in Li-Fraumeni syndrome, which is associated with increased risk of developing breast cancer (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Methylprednisolone + Rituximab	Guideline	Actionable	Artisone-Wyeth (methylprednisolone) combined with Rituxan (rituximab) is indicated in the guidelines as first-line therapy and second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
BRAF V600E	hairy cell leukemia	not applicable	N/A	Guideline	Diagnostic	BRAF V600E is diagnostic and aids in distinguishing classic hairy cell leukemia (cHCL) from variant hairy cell leukemia (HCLv) and other B-cell lymphomas and leukemias (PMID: 29118233, NCCN.org).	detail... 29118233
RET fusion	intrahepatic cholangiocarcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as primary (category 2B) and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including intrahepatic cholangiocarcinoma (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Carboplatin + Cemiplimab + Pemetrexed Disodium	Guideline	Actionable	Combination Paraplatin (carboplatin), Alimta (pemetrexed disodium), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
MSH2 mutant	small intestine adenocarcinoma	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).	detail...
IDH1 wild-type	IDH-wildtype glioblastoma	not applicable	N/A	Guideline	Diagnostic	Wild-type IDH1 aids in the diagnosis of glioblastoma (NCCN.org).	detail...
BRAF V600E	anaplastic astrocytoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic astrocytoma (NCCN.org).	detail...
BRAF V600E	papillary thyroid carcinoma	sensitive	Dabrafenib	Guideline	Actionable	Tafinlar (dabrafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid papillary carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (NCCN.org).	detail...
IDH2 mutant	acute myeloid leukemia	sensitive	Decitabine	Guideline	Actionable	Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).	detail...
FLT3 exon21	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH2 negative	pancreatic adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line therapy for mismatch repair-deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) pancreatic adenocarcinoma patients with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), with metastatic disease with good, intermediate, or poor (ECOG 3) PS, and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease (NCCN.org).	detail...
POLD1 inact mut	rectum cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer harboring POLD1 inactivating mutations (NCCN.org).	detail...
MLH1 negative	colon cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ATM mutant	pancreatic cancer	not applicable	N/A	Guideline	Risk Factor	Germline ATM mutations are associated with increased risk of developing pancreatic cancer (NCCN.org).	detail...
IDH2 mutant	high grade glioma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of gliomas (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is in guidelines as first-line therapy for advanced or metastatic non-small cell lung cancer patients with CD274 (PD-L1) expression 1% to 49% and as preferred first-line therapy with CD274 (PD-L1) expression of 50% or more, and negative for actionable molecular biomarkers; and as continued maintenance and subsequent therapy for patients with CD274 (PD-L1) expression of 1% or more (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Cemiplimab + Cisplatin + Paclitaxel	Guideline	Actionable	Combination Platinol (cisplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
POLE inact mut	small intestine adenocarcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring POLE inactivating mutations (NCCN.org).	detail...
ABL1 rearrange	myeloid neoplasm	sensitive	Asciminib	Guideline	Actionable	Scemblix (asciminib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an ABL1 rearrangement (NCCN.org).	detail...
FGFR3 act mut	breast cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org).	detail...
FLT3 exon23	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Idarubicin and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
PMS2 negative	esophagus squamous cell carcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	Squamous Cell Carcinoma of Unknown Primary	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with squamous cell carcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
APC mutant	medulloblastoma	not applicable	N/A	Guideline	Prognostic	WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Carboplatin + Cemiplimab + Paclitaxel	Guideline	Actionable	Combination Paraplatin (carboplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
MLH1 negative	ampulla of Vater adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) and Yervoy (ipilimumab) combination therapy is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Ibrutinib + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) combined with Imbruvica (ibrutinib) is indicated in guidelines as first-line (category 2A), second-line, or third-line therapy (category 2B) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
MSH2 negative	chondrosarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chondrosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
NRAS exon2	colon cancer	resistant	Panitumumab	Guideline	Actionable	Vectibix (panitumumab) is not indicated for use in colon cancer patients with NRAS exon 2 mutations (NCCN.org).	detail...
IDH2 wild-type	IDH-wildtype glioblastoma	not applicable	N/A	Guideline	Diagnostic	Wild-type IDH2 aids in the diagnosis of glioblastoma (NCCN.org).	detail...
MAP2K1 mutant	Erdheim-Chester disease	sensitive	Trametinib	Guideline	Actionable	Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).	detail...
MLH1 negative	cervical cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with cervical cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	esophagus adenocarcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
APC mutant	desmoid tumor	not applicable	N/A	Guideline	Diagnostic	APC mutations aid the diagnosis of desmoid tumor (NCCN.org).	detail...
PMS2 negative	sarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for soft tissue sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), regardless of sarcoma sub-type (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Rituximab + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
MSH6 negative	breast cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines for patients with metastatic or unresectable breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org).	detail...
MLH1 negative	testicular germ cell cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TET2 mutant	myelofibrosis	not applicable	N/A	Guideline	Diagnostic	TET2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org).	detail...
POLD1 inact mut	colorectal cancer	not applicable	N/A	Guideline	Prognostic	POLD1 inactivating mutations are associated with a more favorable prognosis in patients with colorectal cancer (NCCN.org).	detail...
MLH1 negative	stomach cancer	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ALK rearrange	anaplastic large cell lymphoma	sensitive	Ceritinib	Guideline	Actionable	Zykadia (ceritinib) is included in guidelines as initial, second-line, and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org).	detail...
CDKN2A mutant	skin melanoma	not applicable	N/A	Guideline	Risk Factor	Germline CDKN2A mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org).	detail...
NRAS mutant	skin melanoma	sensitive	Binimetinib	Guideline	Actionable	Mektovi (binimetinib) is included in guidelines as second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring an NRAS mutation (NCCN.org).	detail...
PMS2 negative	esophagus adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	extrahepatic bile duct carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).	detail...
BRAF fusion	pilocytic astrocytoma	not applicable	N/A	Guideline	Diagnostic	BRAF fusions aid in the diagnosis of pilocytic astrocytoma (NCCN.org).	detail...
BRAF V600E	glioblastoma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent glioblastoma harboring BRAF V600E (NCCN.org).	detail...
PMS2 negative	endometrial carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line or second-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).	detail...
NRAS exon2	rectum cancer	resistant	Panitumumab	Guideline	Actionable	Vectibix (panitumumab) is not indicated for use in rectum cancer patients with NRAS exon 2 mutations (NCCN.org).	detail...
MSH6 negative	esophagus squamous cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as second-line or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal squamous cell carcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
KIT D816X	systemic mastocytosis	not applicable	N/A	Guideline	Diagnostic	Activating mutations at codon 816 of KIT aid in the diagnosis of systemic mastocytosis (NCCN.org).	detail...
POLE inact mut	small intestine adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring POLE inactivating mutations (NCCN.org).	detail...
PMS2 negative	follicular thyroid carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with follicular thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
CD274 positive	gastric adenocarcinoma	sensitive	Capecitabine + Cisplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with a fluoropyrimidine (Xeloda (capecitabine) or Adrucil (fluorouracil)) and platinum-containing chemotherapy (Platinol (cisplatin) or Eloxatin (oxaliplatin)) is included in guidelines as a preferred first-line therapy for patients with locally advanced, unresectable, or metastatic gastric adenocarcinoma expressing CD274 (PD-L1, CPS>/=10; category 1) or CD274 (PD-L1, CPS>/=1 and <10; category 2B) and without ERBB2 (HER2) overexpression (NCCN.org).	detail...
POLD1 inact mut	small intestine adenocarcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring POLD1 inactivating mutations (NCCN.org).	detail...
IDH2 R172X	myelodysplastic syndrome	not applicable	N/A	Guideline	Prognostic	IDH2 R172X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).	detail...
BRAF V600E	anaplastic oligodendroglioma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic oligodendroglioma (NCCN.org).	detail...
POLE inact mut	colorectal cancer	not applicable	N/A	Guideline	Prognostic	POLE inactivating mutations are associated with a more favorable prognosis in patients with colorectal cancer (NCCN.org).	detail...
MLH1 negative	small intestine adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	head and neck squamous cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive recurrent, unresectable, or metastatic non-nasopharyngeal head and neck squamous cell carcinoma (NCCN.org).	detail...
MSH2 negative	endometrial carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line or second-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).	detail...
BRAF V600E	rectum cancer	resistant	Panitumumab	Guideline	Actionable	Vectibix (panitumumab), as a monotherapy, is not indicated for use in rectum cancer patients with BRAF V600E (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Decitabine + Sorafenib	Guideline	Actionable	Nexavar (sorafenib) in combination with Dacogen (decitabine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Cisplatin + Ipilimumab + Nivolumab + Pemetrexed Disodium	Guideline	Actionable	Combination Platinol (cisplatin), Alimta (pemetrexed), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
ATM mutant	prostate cancer	not applicable	N/A	Guideline	Risk Factor	Germline ATM mutations are associated with increased risk of developing prostate cancer (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Venetoclax	Guideline	Actionable	Venclexta (venetoclax) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
MSH2 negative	esophagus squamous cell carcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 mutant	osteosarcoma	not applicable	N/A	Guideline	Risk Factor	Germline mutations in TP53 result in Li-Fraumeni syndrome, which is associated with increased risk of developing osteosarcoma (NCCN.org).	detail...
VHL inact mut	renal cell carcinoma	sensitive	Belzutifan	Guideline	Actionable	Welireg (belzutifan) is included in guidelines for patients with Von Hippel-Lindau disease-associated renal cell carcinoma that do not require immediate surgery (NCCN.org).	detail...
NRAS exon2	colon cancer	resistant	Cetuximab	Guideline	Actionable	Erbitux (cetuximab) is not indicated for use in colon cancer patients with NRAS exon 2 mutations (NCCN.org).	detail...
CDKN2A mutant	pancreatic cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in CDKN2A results in familial malignant melanoma syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).	detail...
NRAS wild-type	colon cancer	predicted - sensitive	Panitumumab	Guideline	Actionable	Vectibix (panitumumab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic colon cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).	detail...
PMS2 negative	colon cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	endometrial carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent-line therapy for patients with recurrent or metastatic endometrial carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	extrahepatic bile duct carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).	detail...
MSH2 negative	ovarian germ cell cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as recurrence therapy for patients with malignant ovarian germ cell tumors with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	gastroesophageal junction adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	esophagus squamous cell carcinoma	sensitive	Cisplatin + Fluorouracil + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Platinol (cisplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) and for patients with CPS <10 (category 2B) (NCCN.org).	detail...
DNMT3A mutant	angioimmunoblastic T-cell lymphoma	not applicable	N/A	Guideline	Diagnostic	DNMT3A mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).	detail...
MSH2 negative	cervical cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with cervical cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	gastric adenocarcinoma	sensitive	Cisplatin + Fluorouracil + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with a fluoropyrimidine (Adrucil (fluorouracil) or Xeloda (capecitabine)) and platinum-containing chemotherapy (Platinol (cisplatin) or Eloxatin (oxaliplatin)) is included in guidelines as a preferred first-line therapy for patients with locally advanced, unresectable, or metastatic gastric adenocarcinoma expressing CD274 (PD-L1, CPS>/=10; category 1) or CD274 (PD-L1, CPS>/=1 and <10; category 2B) and without ERBB2 (HER2) overexpression (NCCN.org).	detail...
FGFR1 rearrange	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	FGFR1 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
VHL inact mut	clear cell renal cell carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline inactivating mutations in VHL result in von Hippel-Lindau (VHL) syndrome, which is associated with increased risk of developing clear cell renal cell carcinoma (NCCN.org).	detail...
JAK1 mutant	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK1 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
IDH1 mutant	cholangiocarcinoma	sensitive	Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) is included in guidelines as subsequent therapy (category 1) for cholangiocarcinoma patients harboring IDH1 mutations (NCCN.org).	detail...
PMS2 mutant	stomach cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in PMS2 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).	detail...
MLH1 negative	Adenocarcinoma of Unknown Primary	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 loss TP53 mut	chronic lymphocytic leukemia/small lymphocytic lymphoma	not applicable	N/A	Guideline	Prognostic	The presence of a TP53 mutation combined with TP53 loss is associated with shorter progression-free survival and overall survival with chemoimmunotherapy, fixed duration venetoclax-based regimens, and covalent BTK inhibitors in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org).	detail...
RET fusion	anaplastic thyroid carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as systemic therapy for patients with anaplastic thyroid carcinoma harboring RET fusions (NCCN.org).	detail...
PMS2 negative	gastroesophageal junction adenocarcinoma	sensitive	Durvalumab + Tremelimumab	Guideline	Actionable	Imfinzi (durvalumab), in combination with Imjudo (tremelimumab), is included in guidelines as neoadjuvant therapy for patients with gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	rectum cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	intrahepatic cholangiocarcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as subsequent-line therapy for patients with biliary cancer harboring BRAF V600E, including intrahepatic cholangiocarcinoma (NCCN.org).	detail...
PMS2 negative	esophagus squamous cell carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	stomach cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced or metastatic gastric cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF L597X	melanoma	sensitive	Trametinib	Guideline	Actionable	Mekinist (trametinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with BRAF L597 mutations (NCCN.org).	detail...
FGFR2 act mut	lung non-small cell carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).	detail...
BRAF V600E	gastrointestinal stromal tumor	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as neoadjuvant therapy for patients with resectable disease and as first-line systemic therapy for patients with unresectable or metastatic gastrointestinal stromal tumor (GIST) harboring BRAF V600E (NCCN.org).	detail...
FLT3 exon14	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MLH1 negative	breast cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines for patients with metastatic or unresectable breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org).	detail...
MSH6 mutant	ovarian cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org).	detail...
CD274 positive	triple-receptor negative breast cancer	sensitive	Nab-paclitaxel + Pembrolizumab	Guideline	Actionable	Combination of Keytruda (pembrolizumab) and Abraxane (nab-paclitaxel) is included in guidelines for patients with recurrent or metastatic CD274 (PD-L1)-positive (CPS >or= 10) triple-receptor negative breast cancer (NCCN.org).	detail...
KMT2A rearrange	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	KMT2A rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
IDH2 act mut	astrocytoma, IDH-mutant, grade 2	sensitive	Vorasidenib	Guideline	Actionable	Voranigo (vorasidenib) is included in guidelines as adjuvant therapy for patients with WHO grade 2 astrocytoma harboring an IDH2 activating mutation (NCCN.org).	detail...
MLH1 negative	gastroesophageal junction adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 wild-type	high grade glioma	not applicable	N/A	Guideline	Risk Factor	IDH1 wild-type is associated with increased risk of aggressive disease in patients with grade II or III infiltrative gliomas (NCCN.org).	detail...
ALK rearrange	inflammatory myofibroblastic tumor	sensitive	Brigatinib	Guideline	Actionable	Alunbrig (brigatinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).	detail...
FGFR3 act mut	transitional cell carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines as second-line or subsequent-line therapy for patients with advanced or metastatic urothelial carcinoma harboring susceptible FGFR3 alterations (NCCN.org).	detail...
MLH1 negative	Adenocarcinoma of Unknown Primary	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	follicular thyroid carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with follicular thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
CD274 positive	head and neck cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with CD274 (PD-L1)-positive (CPS >= 1) recurrent, unresectable, or metastatic non-nasopharyngeal head and neck cancer (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Acalabrutinib	Guideline	Actionable	Calquence (acalabrutinib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Acalabrutinib	Guideline	Actionable	Calquence (acalabrutinib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
STK11 mutant	small intestine adenocarcinoma	not applicable	N/A	Guideline	Risk Factor	Peutz-Jeghers syndrome often results from mutations in the STK11 gene, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).	detail...
RET fusion	gallbladder cancer	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as primary (category 2B) and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including gallbladder cancer (NCCN.org).	detail...
IDH1 act mut	astrocytoma, IDH-mutant, grade 4	sensitive	Vorasidenib	Guideline	Actionable	Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive WHO grade 4 astrocytoma harboring an IDH1 activating mutation (NCCN.org).	detail...
MSH2 negative	rectum cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Ibrutinib	Guideline	Actionable	Imbruvica (ibrutinib) is indicated in the guidelines as first line therapy and second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Cisplatin + Pembrolizumab + Pemetrexed Disodium	Guideline	Actionable	Combination Platinol (cisplatin), Alimta (pemetrexed disodium), and Keytruda (pembrolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
IDH1 mutant	acute myeloid leukemia	sensitive	Decitabine	Guideline	Actionable	Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).	detail...
IDH1 mutant	polycythemia vera	not applicable	N/A	Guideline	Prognostic	IDH1 mutations are associated with inferior overall survival in patients with polycythemia vera (NCCN.org).	detail...
JAK2 mutant	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
PMS2 negative	Adenocarcinoma of Unknown Primary	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FGFR1 rearrange	myeloid and lymphoid neoplasms associated with FGFR1 abnormalities	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an FGFR1 rearrangement (NCCN.org).	detail...
MSH2 negative	sarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for soft tissue sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), regardless of sarcoma sub-type (NCCN.org).	detail...
PMS2 negative	esophagus adenocarcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
JAK2 rearrange	myeloid neoplasm	sensitive	Ruxolitinib	Guideline	Actionable	Jakafi (ruxolitinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a JAK2 rearrangement (NCCN.org).	detail...
MSH2 negative	esophagus adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	skin melanoma	sensitive	Dabrafenib	Guideline	Actionable	Tafinlar (dabrafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600E, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).	detail...
BRAF V600X	skin melanoma	sensitive	Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) therapy is included in guidelines for patients with unresectable or metastatic cutaneous melanoma harboring BRAF V600 activating mutations, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).	detail...
MLH1 negative	medullary thyroid carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with medullary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
PMS2 negative	stomach cancer	sensitive	Durvalumab + Tremelimumab	Guideline	Actionable	Imfinzi (durvalumab), in combination with Imjudo (tremelimumab, is included in guidelines as neoadjuvant therapy for patients with gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	ampulla of Vater adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) and Yervoy (ipilimumab) combination therapy is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	rectum cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	no benefit	Nivolumab	Guideline	Actionable	Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org).	detail...
RET fusion	pancreatic adenocarcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as first-line therapy for pancreatic adenocarcinoma patients harboring RET fusions with locally advanced or metastatic disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease with good PS (NCCN.org).	detail...
BRAF V600E	colon cancer	resistant	Cetuximab	Guideline	Actionable	Erbitux (cetuximab), as a monotherapy, is not indicated for use in colon cancer patients with BRAF V600E (NCCN.org).	detail...
MLH1 negative	stomach cancer	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	head and neck cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as first-line therapy (category 2B) for patients with CD274 (PD-L1)-positive (CPS >= 20) recurrent, unresectable, or metastatic non-nasopharyngeal head and neck cancer (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Atezolizumab + Bevacizumab + Carboplatin + Paclitaxel	Guideline	Actionable	Combination Paraplatin (carboplatin), Taxol (paclitaxel), Avastin (bevacizumab), and Tecentriq (atezolizumab) is in guidelines as first-line therapy for patients with advanced or metastartic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
PMS2 negative	testicular germ cell cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	gastroesophageal junction adenocarcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Eloxatin (oxaliplatin), is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative gastroesophageal junction adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 5 (category 1) or with CPS < 5 (category 2B) (NCCN.org).	detail...
PMS2 negative	prostate adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with advanced or metastatic prostate adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MSH2 negative	stomach cancer	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	high grade glioma	sensitive	Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring BRAF V600E, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).	detail...
RET fusion	medullary thyroid carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with medullary thyroid carcinoma harboring RET fusions (NCCN.org).	detail...
PMS2 negative	stomach cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	esophagus squamous cell carcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	triple-receptor negative breast cancer	sensitive	Carboplatin + Gemcitabine + Pembrolizumab	Guideline	Actionable	Combination of Keytruda (pembrolizumab), Paraplatin (carboplatin), and Gemzar (gemcitabine) is included in guidelines for patients with recurrent or metastatic CD274 (PD-L1)-positive (CPS >or= 10) triple-receptor negative breast cancer (NCCN.org).	detail...
MLH1 negative	endometrial carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line or second-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).	detail...
MLH1 negative	esophagus squamous cell carcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	esophagus adenocarcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	osteosarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic osteosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MAP2K1 mutant	follicular lymphoma	not applicable	N/A	Guideline	Diagnostic	MAP2K1 mutations aid in the diagnosis of follicular lymphoma (NCCN.org).	detail...
RET fusion	anaplastic thyroid carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with anaplastic thyroid carcinoma harboring RET fusions (NCCN.org).	detail...
MSH6 negative	small intestine adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	appendix adenocarcinoma	sensitive	Cetuximab + Encorafenib	Guideline	Actionable	Braftovi (encorafenib) in combination with Erbitux (cetuximab) is included in guidelines for patients with advanced or metastatic appendiceal adenocarcinoma harboring BRAF V600E (NCCN.org).	detail...
PMS2 negative	esophagus squamous cell carcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	stomach cancer	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	esophagus squamous cell carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	low grade glioma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent or progressive low grade glioma harboring BRAF V600E (NCCN.org).	detail...
KIT D816V	systemic mastocytosis	not applicable	N/A	Guideline	Prognostic	KIT D816V is associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org).	detail...
MSH2 negative	stomach cancer	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Alemtuzumab + Rituximab	Guideline	Actionable	Campath (alemtuzumab) combined with Rituxan (rituximab) is indicated in guidelines as therapy for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation who received prior treatment with a BTK inhibitor or Venclexta (venetoclax)-based therapy (NCCN.org).	detail...
FLT3 exon18	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
BRAF V600E	salivary gland cancer	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for patients with recurrent, unresectable, or metastatic salivary gland tumors harboring BRAF V600E (NCCN.org).	detail...
MSH6 negative	endometrial carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent-line therapy for patients with recurrent or metastatic endometrial carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	gastroesophageal junction adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	gastric adenocarcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with a fluoropyrimidine (Xeloda (capecitabine) or Adrucil (fluorouracil)) and platinum-containing chemotherapy (Eloxatin (oxaliplatin) or Platinol (cisplatin)) is included in guidelines as a preferred first-line therapy for patients with locally advanced, unresectable, or metastatic gastric adenocarcinoma expressing CD274 (PD-L1, CPS>/=10; category 1) or CD274 (PD-L1, CPS>/=1 and <10; category 2B) and without ERBB2 (HER2) overexpression (NCCN.org).	detail...
IDH1 mutant	acute myeloid leukemia	sensitive	Azacitidine + Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) in combination with Vidaza (azacitidine) is included in guidelines. (category 1) for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).	detail...
CD274 positive	gastroesophageal junction adenocarcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative gastroesophageal junction adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 5 (category 1) or with CPS < 5 (category 2B) (NCCN.org).	detail...
FLT3 rearrange	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	FLT3 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
MSH2 negative	esophagus adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	gastroesophageal junction adenocarcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	rectum cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 mutant	acute myeloid leukemia	sensitive	Azacitidine	Guideline	Actionable	Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Carboplatin + Cemiplimab + Pemetrexed Disodium	Guideline	Actionable	Combination Paraplatin (carboplatin), Alimta (pemetrexed disodium), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
MSH6 negative	esophagus squamous cell carcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	esophagus squamous cell carcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	Ewing sarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic Ewing sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	gallbladder cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).	detail...
BRAF V600E	neuroendocrine tumor	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Mekinist (trametinib) and Tafinlar (dabrafenib) combination therapy is included in guidelines for patients with unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms harboring BRAF V600E who have progressed on or following prior treatment (NCCN.org).	detail...
MSH2 negative	gastroesophageal junction adenocarcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET C618X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET C618X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
PMS2 negative	Ewing sarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic Ewing sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
POLD1 inact mut	small intestine adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring POLD1 inactivating mutations (NCCN.org).	detail...
MSH6 negative	ovarian germ cell cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as recurrence therapy for patients with malignant ovarian germ cell tumors with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	stomach cancer	sensitive	Durvalumab + Tremelimumab	Guideline	Actionable	Imfinzi (durvalumab), in combination with Imjudo (tremelimumab, is included in guidelines as neoadjuvant therapy for patients with gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	esophagus adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal adenocarcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
MLH1 negative	esophagus adenocarcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	gastroesophageal junction adenocarcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	Ewing sarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic Ewing sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	small intestine adenocarcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FGFR2 fusion	cholangiocarcinoma	sensitive	Pemigatinib	Guideline	Actionable	Pemazyre (pemigatinib) is included in guidelines as subsequent-line therapy for patients with cholangiocarcinoma harboring FGFR2 fusions or rearrangements (NCCN.org).	detail...
MLH1 mutant	rectum cancer	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org).	detail...
MSH6 negative	colon cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET C634X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET C634X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
MSH6 negative	gastroesophageal junction adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ATR inact mut	prostate cancer	sensitive	Enzalutamide + Talazoparib	Guideline	Actionable	Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic ATR mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org).	detail...
IDH2 mutant	essential thrombocythemia	not applicable	N/A	Guideline	Prognostic	The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org).	detail...
MLH1 negative	gastroesophageal junction adenocarcinoma	sensitive	Durvalumab + Tremelimumab	Guideline	Actionable	Imfinzi (durvalumab), in combination with Imjudo (tremelimumab), is included in guidelines as neoadjuvant therapy for patients with gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH2 mutant	acute myeloid leukemia	sensitive	Enasidenib	Guideline	Actionable	Idhifa (enasidenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).	detail...
MLH1 negative	stomach cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
RET E768X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET E768X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
CD274 positive	esophagus adenocarcinoma	sensitive	Cisplatin + Fluorouracil + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Platinol (cisplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression-negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS >/= 1 and <10 (category 2B) (NCCN.org).	detail...
ALK rearrange	inflammatory myofibroblastic tumor	sensitive	Ceritinib	Guideline	Actionable	Zykadia (ceritinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).	detail...
ATM mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	not applicable	N/A	Guideline	Prognostic	ATM mutations are associated with shorter time to first treatment, progression-free survival, time to next treatment, and overall survival with chemoimmunotherapy compared to wild-type ATM in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org).	detail...
ALK rearrange	anaplastic large cell lymphoma	sensitive	Crizotinib	Guideline	Actionable	Xalkori (crizotinib) is included in guidelines as second-line and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org).	detail...
FLT3 exon20	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
CD274 positive	lung squamous cell carcinoma	sensitive	Carboplatin + Cemiplimab + Paclitaxel	Guideline	Actionable	Combination Paraplatin (carboplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic squamous cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
CD274 over exp	lung adenocarcinoma	sensitive	Cemiplimab	Guideline	Actionable	Libtayo (cemiplimab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers; and as continued maintenance therapy (NCCN.org).	detail...
FLT3 exon22	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
BRAF V600K	skin melanoma	sensitive	Atezolizumab + Cobimetinib + Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) plus Cotellic (cobimetinib) in combination with an immune checkpoint inhibitor, such as Tecentriq (atezolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600K (NCCN.org).	detail...
MLH1 mutant	endometrial carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org).	detail...
MSH6 negative	extrahepatic bile duct carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).	detail...
RET fusion	gallbladder cancer	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as primary (category 2B) and subsequent-line therapy (category 2B) for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including gallbladder cancer (NCCN.org).	detail...
BRAF V600E	pancreatic adenocarcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as first-line therapy for pancreatic adenocarcinoma patients harboring BRAF V600E with locally advanced disease (category 2A) with good (ECOG 0-1) or intermediate (ECOG 2) performance status, as first-line therapy in patients metastatic disease (category 2B) disease, and as subsequent-line therapy for patients with locally advanced, recurrent, or metastatic disease (category 2A) (NCCN.org).	detail...
CD274 positive	esophagus adenocarcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression-negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS >/= 1 and <10 (category 2B) (NCCN.org).	detail...
PIK3CA mutant	Erdheim-Chester disease	sensitive	Trametinib	Guideline	Actionable	Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).	detail...
FGFR2 fusion	breast cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Obinutuzumab	Guideline	Actionable	Gazyva (obinutuzumab) is indicated in the guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
MSH2 negative	neuroendocrine tumor	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) locally advanced or metastatic well-differentiated, Grade 3 neuroendocrine tumors or unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms who have progressed on or following prior treatment (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Duvelisib	Guideline	Actionable	Copiktra (duvelisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
MSH6 negative	colon cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon20	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
PMS2 negative	intrahepatic cholangiocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).	detail...
VHL inact mut	islet cell tumor	not applicable	N/A	Guideline	Risk Factor	Germline inactivating mutations in VHL result in von Hippel-Lindau (VHL) syndrome, which is associated with increased risk of developing pancreatic neuroendocrine tumors (NCCN.org).	detail...
MSH6 mutant	small intestine adenocarcinoma	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).	detail...
MSH6 negative	ampulla of Vater adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) and Yervoy (ipilimumab) combination therapy is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ALK fusion	Erdheim-Chester disease	sensitive	Ceritinib	Guideline	Actionable	Zykadia (ceritinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).	detail...
MSH2 mutant	colon cancer	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org).	detail...
RET fusion	stomach cancer	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer harboring RET fusion (NCCN.org). (NCCN.org).	detail...
FLT3 rearrange	myeloid neoplasm	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).	detail...
MSH6 negative	sarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for soft tissue sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), regardless of sarcoma sub-type (NCCN.org).	detail...
CD274 positive	bladder urothelial carcinoma	sensitive	Atezolizumab	Guideline	Actionable	Tecentriq (atezolizumab) is included in guidelines as a first-line therapy (category 2B) for cisplatin-ineligible bladder urothelial carcinoma patients with immune cell CD274 (PD-L1) expression greater than or equal to 5% (NCCN.org).	detail...
FLT3 exon23	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
CD274 positive	cervical cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as second-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).	detail...
IDH2 mutant	acute myeloid leukemia	sensitive	Azacitidine + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) in combination with Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Duvelisib	Guideline	Actionable	Copiktra (duvelisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
BRAF V600E	pilocytic astrocytoma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as an adjuvant treatment for patients with pilocytic astrocytoma harboring BRAF V600E (NCCN.org).	detail...
PMS2 mutant	small intestine adenocarcinoma	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Lenalidomide + Rituximab	Guideline	Actionable	Revlimid (lenalidomide) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
PMS2 negative	Adenocarcinoma of Unknown Primary	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	gastroesophageal junction adenocarcinoma	sensitive	Cisplatin + Fluorouracil + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Platinol (cisplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative gastroesophageal junction adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS >/=1 and <10 (category 2B) (NCCN.org).	detail...
ALK fusion	Erdheim-Chester disease	sensitive	Crizotinib	Guideline	Actionable	Xalkori (crizotinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).	detail...
IDH2 R140Q	myelodysplastic syndrome	not applicable	N/A	Guideline	Prognostic	IDH2 R140Q is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Idelalisib + Rituximab	Guideline	Actionable	Zydelig (idelalisib) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
BRAF V600E	anaplastic thyroid carcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for metastatic thyroid gland anaplastic carcinoma patients harboring BRAF V600E (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	no benefit	Ipilimumab + Nivolumab	Guideline	Actionable	Immune checkpoint inhibitors including Keytruda (pembrolizumab), Tecentriq (atezolizumab), and the combination of Opdivo (nivolumab) and Yervoy (ipilimumab) are not indicated for use as initial systemic therapy in non-small cell lung cancer patients harboring oncogenes, including ALK rearrangement (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Carboplatin + Durvalumab + Pemetrexed Disodium + Tremelimumab	Guideline	Actionable	Combination Paraplatin (carboplatin), Alimta (pemetrexed disodium), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).	detail...
ROS1 rearrange	lung non-small cell carcinoma	sensitive	Lorlatinib	Guideline	Actionable	Lorbrena (lorlatinib) is included in guidelines as subsequent therapy in patients with advanced or metastatic ROS1-rearranged non-small lung cancer (NCCN.org).	detail...
FLT3 exon22	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH2 negative	esophagus squamous cell carcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET fusion	colon cancer	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with metastatic colon cancer harboring RET fusions (NCCN.org).	detail...
MSH6 negative	stomach cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced or metastatic gastric cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	small intestine adenocarcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	gastroesophageal junction adenocarcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH2 act mut	oligodendroglioma	sensitive	Vorasidenib	Guideline	Actionable	Voranigo (vorasidenib) is included in guidelines as adjuvant therapy for patients with WHO grade 2 or 3 1p19q codeleted oligodendroglioma harboring an IDH2 activating mutation (NCCN.org).	detail...
MSH2 mutant	stomach cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org).	detail...
MSH2 negative	ovary epithelial cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
KIT act mut	skin melanoma	sensitive	Nilotinib	Guideline	Actionable	Tasigna (nilotinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).	detail...
PMS2 negative	ampulla of Vater adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF fusion	pilocytic astrocytoma	sensitive	Selumetinib	Guideline	Actionable	Koselugo (selumetinib) is included in guidelines for patients with recurrent or progressive pilocytic astrocytoma harboring a BRAF fusion (NCCN.org).	detail...
PMS2 negative	esophagus squamous cell carcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Atezolizumab + Carboplatin + Nab-paclitaxel	Guideline	Actionable	Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), and Tecetriq (atezolizumab) is in guidelines as first-line therapy for non-small cell lung cancer patients with CD274 (PD-L1) expression of greater than or equal to 1% (NCCN.org)	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
BRAF V600E	esophagus squamous cell carcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma harboring BRAF V600E (NCCN.org).	detail...
MLH1 negative	stomach cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	gastroesophageal junction adenocarcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF wild-type	colon cancer	predicted - sensitive	Cetuximab	Guideline	Actionable	Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic colon cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).	detail...
MLH1 negative	endometrial carcinoma	sensitive	Avelumab	Guideline	Actionable	Bavencio (avelumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Sorafenib	Guideline	Actionable	Nexavar (sorafenib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
FLT3 D835X	myelodysplastic syndrome	not applicable	N/A	Guideline	Prognostic	FLT3 D835 mutations are associated with poor prognosis in patients with myelodysplastic syndromes (NCCN.org).	detail...
RET C611X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET C611X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
POLD1 inact mut	colon cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLD1 inactivating mutations (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Alemtuzumab + Rituximab	Guideline	Actionable	Campath (alemtuzumab) combined with Rituxan (rituximab) is indicated in guidelines as therapy for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss who received prior treatment with a BTK inhibitor or Venclexta (venetoclax)-based therapy (NCCN.org).	detail...
MSH2 negative	oncocytic carcinoma of the thyroid	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with Hurthle cell thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Methylprednisolone + Obinutuzumab	Guideline	Actionable	Artisone-Wyeth (methylprednisolone) combined with Gazyva (obinutuzumab) is indicated in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation and for patients with relapsed or refractory disease after prior BTK inhibitor or Venclexta (venetoclax)-based therapy (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	no benefit	Atezolizumab	Guideline	Actionable	Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org).	detail...
BRAF V600E	pilocytic astrocytoma	sensitive	Selumetinib	Guideline	Actionable	Koselugo (selumetinib) is included in guidelines for patients with recurrent or progressive pilocytic astrocytoma harboring BRAF V600E (NCCN.org).	detail...
RET A883X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET A883X mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
FLT3 exon18	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Quizartinib	Guideline	Actionable	Vanflyta (quizartinib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MSH2 negative	stomach cancer	sensitive	Durvalumab + Tremelimumab	Guideline	Actionable	Imfinzi (durvalumab), in combination with Imjudo (tremelimumab, is included in guidelines as neoadjuvant therapy for patients with gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	rectum cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	colon cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	endometrial carcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Idelalisib	Guideline	Actionable	Zydelig (idelalisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
BRAF V600X	skin melanoma	sensitive	Dabrafenib + Pembrolizumab + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) plus Mekinist (trametinib) in combination with an immune checkpoint inhibitor, such as Keytruda (pembrolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation (NCCN.org).	detail...
RET fusion	extrahepatic bile duct carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as primary (category 2B) and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including extrahepatic cholangiocarcinoma (NCCN.org).	detail...
FLT3 exon23	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
RET V804M RET S904C	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Compound germline RET V804M and S904C mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
PMS2 negative	colon cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	small intestine adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 mutant	colon cancer	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org).	detail...
CD274 positive	esophagus squamous cell carcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) and for patients with CPS <10 (category 2B) (NCCN.org).	detail...
ROS1 rearrange	lung non-small cell carcinoma	sensitive	Entrectinib	Guideline	Actionable	Rozlytrek (entrectinib) is included in guidelines as a first-line or subsequent therapy for patients with advanced or metastatic ROS1 rearrangement-positive non-small cell lung cancer (NCCN.org).	detail...
BRAF V600E	papillary thyroid carcinoma	sensitive	Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid papillary carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (NCCN.org).	detail...
MSH6 negative	ampulla of Vater adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET rearrange	lung non-small cell carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is in guidelines as a first-line therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (NCCN.org).	detail...
MSH6 mutant	rectum cancer	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org).	detail...
PMS2 negative	vaginal carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	gallbladder cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).	detail...
POLE inact mut	small intestine adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring POLE inactivating mutations (NCCN.org).	detail...
BRAF V600E	pleomorphic xanthoastrocytoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Mekinist (trametinib) and Tafinlar (dabrafenib) combination therapy is included in guidelines as an adjuvant treatment for patients with pleomorphic xanthoastrocytoma harboring BRAF V600E (NCCN.org).	detail...
MLH1 negative	hepatocellular carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) hepatocellular carcinoma (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	sensitive	Lorlatinib	Guideline	Actionable	Lorbrena (lorlatinib) is included in guidelines as preferred first-line therapy and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (NCCN.org).	detail...
PMS2 negative	esophagus squamous cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal squamous cell carcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
RET fusion	follicular thyroid carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines for patients with follicular thyroid carcinoma harboring RET fusions (NCCN.org).	detail...
FGFR1 act mut	lung non-small cell carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	no benefit	Pembrolizumab	Guideline	Actionable	Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org).	detail...
MLH1 negative	prostate adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with advanced or metastatic prostate adenocarcinoma cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	extrahepatic bile duct carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).	detail...
MSH2 negative	colon cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ALK fusion	Erdheim-Chester disease	sensitive	Alectinib	Guideline	Actionable	Alecensa (alectinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).	detail...
BRAF V600E	high grade glioma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring BRAF V600E, or as a preferred regimen for patients with recurrent or progressive disease (NCCN.org).	detail...
FLT3 exon23	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
IDH2 mutant	angioimmunoblastic T-cell lymphoma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Obinutuzumab + Venetoclax	Guideline	Actionable	The combination of Venclexta (venetoclax) and Gazyva (obinutuzumab) is indicated in the guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
MSH2 negative	ampulla of Vater adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) and Yervoy (ipilimumab) combination therapy is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon14	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
RET M918X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET M918X mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
MSH2 negative	esophagus adenocarcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
NRAS Q61X	myelodysplastic syndrome	not applicable	N/A	Guideline	Prognostic	NRAS Q61X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).	detail...
MSH6 negative	stomach cancer	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Cytarabine + Quizartinib	Guideline	Actionable	Vanflyta (quizartinib) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
IDH1 act mut	astrocytoma, IDH-mutant, grade 2	sensitive	Vorasidenib	Guideline	Actionable	Voranigo (vorasidenib) is included in guidelines as adjuvant therapy for patients with WHO grade 2 astrocytoma harboring an IDH1 activating mutation (NCCN.org).	detail...
PMS2 negative	endometrial carcinoma	sensitive	Avelumab	Guideline	Actionable	Bavencio (avelumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).	detail...
ROS1 fusion	skin melanoma	sensitive	Entrectinib	Guideline	Actionable	Rozlytrek (entrectinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with ROS1 fusions (NCCN.org).	detail...
MLH1 negative	ovary epithelial cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FGFR1 act mut	breast cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org).	detail...
RET fusion	breast cancer	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer harboring RET fusions (NCCN.org).	detail...
CDK12 inact mut	prostate cancer	sensitive	Enzalutamide + Talazoparib	Guideline	Actionable	Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic CDK12 mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org).	detail...
MSH2 negative	colon cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Carboplatin + Pembrolizumab + Pemetrexed Disodium	Guideline	Actionable	Combination Paraplatin (carboplatin), Alimta (pemetrexed), and Keytruda (pembrolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
PMS2 negative	breast cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines for patients with metastatic or unresectable breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org).	detail...
BRAF V600E	skin melanoma	sensitive	Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600E, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).	detail...
POLD1 inact mut	rectum cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLD1 inactivating mutations (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Quizartinib	Guideline	Actionable	Vanflyta (quizartinib) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
RET fusion	rectum cancer	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with metastatic rectum cancer harboring RET fusion (NCCN.org).	detail...
KIT exon11	gastrointestinal stromal tumor	sensitive	Imatinib	Guideline	Actionable	Gleevec (imatinib) is included in guidelines for patients with gastrointestinal stromal tumor (GIST) harboring KIT exon 11 mutations (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	no benefit	Durvalumab	Guideline	Actionable	Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org).	detail...
RET fusion	esophagus squamous cell carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma harboring RET fusions (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Methylprednisolone + Obinutuzumab	Guideline	Actionable	Artisone-Wyeth (methylprednisolone) combined with Gazyva (obinutuzumab) is indicated in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss and for patients with relapsed or refractory disease after prior BTK inhibitor or Venclexta (venetoclax)-based therapy (NCCN.org).	detail...
FGFR2 act mut	breast cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org).	detail...
MSH6 negative	gastroesophageal junction adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon19	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
FGFR2 fusion	pancreatic adenocarcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines as subsequent therapy for patients with recurrent or locally advanced, metastatic pancreatic adenocarcinoma harboring an FGFR2 fusion with good (ECOG 0-1), intermediate (ECOG 2), or poor (ECOG 3) performance status (NCCN.org).	detail...
MSH6 negative	Adenocarcinoma of Unknown Primary	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	chondrosarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chondrosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	esophagus adenocarcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Eloxatin (oxaliplatin), is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 5 (category 1) or with CPS < 5 (category 2B) (NCCN.org).	detail...
FLT3 mutant	acute myeloid leukemia	sensitive	Cytarabine + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring a FLT3 mutation (NCCN.org).	detail...
NRAS exon4	rectum cancer	resistant	Cetuximab	Guideline	Actionable	Erbitux (cetuximab) is not indicated for use in rectum cancer patients with NRAS exon 4 mutations (NCCN.org).	detail...
MLH1 mutant	small intestine adenocarcinoma	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).	detail...
JAK2 exon12	polycythemia vera	not applicable	N/A	Guideline	Diagnostic	JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (NCCN.org).	detail...
MLH1 inact mut	prostate cancer	sensitive	Enzalutamide + Talazoparib	Guideline	Actionable	Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic MLH1 mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org).	detail...
IDH2 wild-type	high grade glioma	not applicable	N/A	Guideline	Risk Factor	IDH2 wild-type is associated with increased risk of aggressive disease in patients with grade II or III infiltrative gliomas (NCCN.org).	detail...
BRAF V600K	skin melanoma	sensitive	Dabrafenib	Guideline	Actionable	Tafinlar (dabrafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600K, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).	detail...
MSH6 negative	gastroesophageal junction adenocarcinoma	sensitive	Durvalumab + Tremelimumab	Guideline	Actionable	Imfinzi (durvalumab), in combination with Imjudo (tremelimumab), is included in guidelines as neoadjuvant therapy for patients with gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon14	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
CD274 positive	esophagus squamous cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a preferred second-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with CD274 (PD-L1) expression (CPS >/=10) (NCCN.org).	detail...
CD274 positive	cervical cancer	sensitive	Pembrolizumab + Tisotumab vedotin-tftv	Guideline	Actionable	Keytruda (pembrolizumab) combined with Tivdak (tisotumab vedotin-tftv) is included in guidelines as second-line or subsequent therapy for patients with recurrent or metastatic cervical cancer expressing CD274 (PD-L1, CPS>/=1) (NCCN.org).	detail...
PMS2 negative	gastroesophageal junction adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
FLT3 mutant	acute myeloid leukemia	sensitive	Decitabine + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring a FLT3 mutation (NCCN.org).	detail...
MSH2 mutant	endometrial carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org).	detail...
MSH6 negative	Ewing sarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic Ewing sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET fusion	cholangiocarcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as primary (category 2B) or subsequent-line therapy (category 2A) for patients with unresectable or metastatic cholangiocarcinoma harboring RET fusions (NCCN.org).	detail...
MSH6 negative	esophagus adenocarcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	vaginal carcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma with CD274 (PD-L1) expression (CPS >/= 1) (NCCN.org).	detail...
RET fusion	follicular thyroid carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with follicular thyroid carcinoma harboring RET fusions (NCCN.org).	detail...
MSH6 negative	papillary thyroid carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with papillary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
POLD1 inact mut	small intestine adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring POLD1 inactivating mutations (NCCN.org).	detail...
ROS1 rearrange	lung non-small cell carcinoma	sensitive	Crizotinib	Guideline	Actionable	Xalkori (crizotinib) is included in guidelines as the preferred first-line therapy for ROS1 rearranged non-small cell lung cancer (NCCN.org).	detail...
MSH2 negative	vulva squamous cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva squamous cell carcinoma (NCCN.org).	detail...
RET mutant	medullary thyroid carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines (category 2B) for patients with medullary thyroid carcinoma harboring RET mutations (NCCN.org).	detail...
BRAF V600K	skin melanoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for melanoma patients harboring a BRAF V600 mutation, such as BRAF V600K, as neoadjuvant or adjuvant therapy for stage III disease and as systemic therapy for patients with unresectable or metastatic disease (NCCN.org).	detail...
STK11 mutant	pancreatic cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in STK11 result in Peutz Jeghers syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).	detail...
PMS2 negative	vulva adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva adenocarcinoma (NCCN.org).	detail...
PMS2 negative	ovary epithelial cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon21	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
FGFR2 fusion	cholangiocarcinoma	sensitive	Futibatinib	Guideline	Actionable	Lytgobi (futibatinib) is included in guidelines as subsequent-line therapy (category 2A) for patients with cholangiocarcinoma harboring an FGFR2 fusion or rearrangement (NCCN.org).	detail...
MSH2 mutant	pancreatic cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).	detail...
MSH6 negative	stomach cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
PTEN mutant	breast cancer	not applicable	N/A	Guideline	Risk Factor	Germline PTEN mutations result in Cowden syndrome, which is associated with increased risk of developing breast cancer (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Carboplatin + Durvalumab + Pemetrexed Disodium + Tremelimumab	Guideline	Actionable	Combination Paraplatin (carboplatin), Alimta (pemetrexed disodium), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).	detail...
BRAF V600E	Adenocarcinoma of Unknown Primary	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring BRAF V600E (NCCN.org).	detail...
MLH1 negative	oncocytic carcinoma of the thyroid	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with Hurthle cell thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
PMS2 negative	stomach cancer	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	gastroesophageal junction adenocarcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	gastroesophageal junction adenocarcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	intrahepatic cholangiocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).	detail...
FLT3 exon16	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
BRAF V600E	lung non-small cell carcinoma	sensitive	Binimetinib + Encorafenib	Guideline	Actionable	Combination of Braftovi (encorafenib) and Mektovi (binimetinib) is included in guidelines as a first-line or subsequent therapy for advanced or metastatic non-small cell lung cancer patients harboring BRAF V600E mutations (NCCN.org).	detail...
IDH2 mutant	myelofibrosis	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org).	detail...
IDH1 mutant	high grade glioma	not applicable	N/A	Guideline	Prognostic	IDH1 mutations are associated with a favorable prognosis in patients with glioma, and are associated with a survival benefit for patients treated with radiation or alkylator therapy (NCCN.org).	detail...
MLH1 negative	esophagus adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 mutant	endometrial carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Ibrutinib + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) combined with Imbruvica (ibrutinib) is indicated in guidelines as first-line (category 2A), second-line, or third-line therapy (category 2B) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Cisplatin + Ipilimumab + Nivolumab + Pemetrexed Disodium	Guideline	Actionable	Combination Platinol (cisplatin), Alimta (pemetrexed), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Carboplatin + Pembrolizumab + Pemetrexed Disodium	Guideline	Actionable	Combination Paraplatin (carboplatin), Alimta (pemetrexed), and Keytruda (pembrolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Carboplatin + Durvalumab + Pemetrexed Disodium + Tremelimumab	Guideline	Actionable	Combination Paraplatin (carboplatin), Alimta (pemetrexed disodium), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).	detail...
POLD1 inact mut	small intestine adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring POLD1 inactivating mutations (NCCN.org).	detail...
TP53 mutant	medulloblastoma	not applicable	N/A	Guideline	Prognostic	TP53 mutations are associated with aggressive disease in patients with SHH-activated medulloblastoma (NCCN.org).	detail...
KMT2A rearrange	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	KMT2A rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
MSH6 negative	chondrosarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chondrosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	pancreatic adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have not received prior immunotherapy (NCCN.org).	detail...
TP53 mutant	myelodysplastic syndrome	not applicable	N/A	Guideline	Prognostic	TP53 mutations except P47S and P72R are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).	detail...
PMS2 negative	gastroesophageal junction adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	gastroesophageal junction adenocarcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma harboring BRAF V600E (NCCN.org).	detail...
CD274 positive	vaginal carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma with CD274 (PD-L1) expression (CPS >/= 1) (NCCN.org).	detail...
MSH6 negative	ovary epithelial cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 mutant	ovarian cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org).	detail...
IDH1 mutant	acute myeloid leukemia	sensitive	Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).	detail...
CD274 positive	cervical cancer	sensitive	Carboplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) combined with Paraplatin (carboplatin) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).	detail...
JAK2 mutant	myelofibrosis	not applicable	N/A	Guideline	Diagnostic	JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org).	detail...
MSH2 negative	esophagus squamous cell carcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	colon cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Combination Opdivo (nivolumab) plus Yervoy (ipilimumab) is in guidelines as first-line or continuation maintenance therapy for advanced or metastatic non-small cell lung cancer patients with CD274 (PD-L1) expression >1% and negative for actionable molecular biomarkers (NCCN.org).	detail...
CD274 positive	gastric adenocarcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with a fluoropyrimidine (Adrucil (fluorouracil) or Xeloda (capecitabine)) and platinum-containing chemotherapy (Eloxatin (oxaliplatin) or Platinol (cisplatin)) is included in guidelines as a preferred first-line therapy for patients with locally advanced, unresectable, or metastatic gastric adenocarcinoma expressing CD274 (PD-L1, CPS>/=10; category 1) or CD274 (PD-L1, CPS>/=1 and <10; category 2B) and without ERBB2 (HER2) overexpression (NCCN.org).	detail...
IDH1 R132H	high grade glioma	not applicable	N/A	Guideline	Diagnostic	IDH1 R132H is diagnostic and aids in the diagnosis of gliomas (NCCN.org).	detail...
RET mutant	medullary thyroid carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with medullary thyroid carcinoma harboring RET mutations (NCCN.org).	detail...
RET fusion	salivary gland cancer	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with recurrent, unresectable, or metastatic salivary gland tumors harboring RET fusions (NCCN.org).	detail...
ABL1 rearrange	myeloid neoplasm	sensitive	Imatinib	Guideline	Actionable	Gleevec (imatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (NCCN.org).	detail...
PMS2 negative	stomach cancer	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	biliary tract cancer	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as subsequent-line therapy for patients with biliary tract cancer harboring BRAF V600E, including intrahepatic cholangiocarcinoma, extrahepatic cholangiocarcinoma, and gallbladder cancer (NCCN.org).	detail...
PMS2 negative	gastroesophageal junction adenocarcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	penile cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as subsequent-line systemic therapy for metastatic/recurrent penile cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon19	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH6 negative	esophagus adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal adenocarcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Cisplatin + Pembrolizumab + Pemetrexed Disodium	Guideline	Actionable	Combination Platinol (cisplatin), Alimta (pemetrexed disodium), and Keytruda (pembrolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
MSH2 negative	endometrial carcinoma	sensitive	Avelumab	Guideline	Actionable	Bavencio (avelumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).	detail...
MSH2 negative	ampulla of Vater adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	gastroesophageal junction adenocarcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600K	skin melanoma	sensitive	Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600K, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).	detail...
PMS2 negative	papillary thyroid carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with papillary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
RET rearrange	lung non-small cell carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as a first-line therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (NCCN.org).	detail...
BRAF V600E	ganglioglioma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as an adjuvant treatment for patients with ganglioglioma harboring BRAF V600E (NCCN.org).	detail...
POLE inact mut	colon cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer harboring POLE inactivating mutations (NCCN.org).	detail...
PMS2 negative	pancreatic adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line therapy for mismatch repair-deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) pancreatic adenocarcinoma patients with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), with metastatic disease with good, intermediate, or poor (ECOG 3) PS, and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease (NCCN.org).	detail...
MSH6 negative	colon cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 act mut	chondrosarcoma	sensitive	Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) is included in guidelines as systemic therapy for patients with conventional or dedifferentiated chondrosarcoma harboring an IDH1 activating mutation (NCCN.org).	detail...
CDK12 inact mut	prostate cancer	sensitive	Olaparib	Guideline	Actionable	Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in CDK12 (NCCN.org).	detail...
MSH2 negative	extrahepatic bile duct carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).	detail...
VHL mutant	islet cell tumor	sensitive	Belzutifan	Guideline	Actionable	Welireg (belzutifan) is included in guidelines for patients with well-differentiated Grade 1/2 progressive pancreatic neuroendocrine tumors harboring germline VHL mutations (NCCN.org).	detail...
MSH2 negative	rectum cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Carboplatin + Cemiplimab + Pemetrexed Disodium	Guideline	Actionable	Combination Paraplatin (carboplatin), Alimta (pemetrexed disodium), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
RET fusion	papillary thyroid carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with papillary thyroid carcinoma harboring RET fusions (NCCN.org).	detail...
MSH2 negative	gastroesophageal junction adenocarcinoma	sensitive	Durvalumab + Tremelimumab	Guideline	Actionable	Imfinzi (durvalumab), in combination with Imjudo (tremelimumab), is included in guidelines as neoadjuvant therapy for patients with gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Lenalidomide + Rituximab	Guideline	Actionable	Revlimid (lenalidomide) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
BRAF V600E	esophagus adenocarcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic esophageal adenocarcinoma harboring BRAF V600E (NCCN.org).	detail...
MSH6 negative	stomach cancer	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	penile cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as subsequent-line systemic therapy for metastatic/recurrent penile cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
POLD1 inact mut	colorectal carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline POLD1 inactivating mutations result in polymerase proofreading-associated polyposis and are associated with increased risk of developing colorectal carcinoma (NCCN.org).	detail...
PMS2 mutant	colon cancer	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org).	detail...
APC mutant	small intestine adenocarcinoma	not applicable	N/A	Guideline	Risk Factor	Familial adenomatous polyposis results from germline mutations in the APC gene, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).	detail...
CD274 positive	esophagus squamous cell carcinoma	sensitive	Capecitabine + Cisplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Platinol (cisplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) and for patients with CPS <10 (category 2B) (NCCN.org).	detail...
RET C609X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET C609X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
FLT3 exon22	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH6 negative	vaginal carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	gallbladder cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).	detail...
ALK rearrange	anaplastic large cell lymphoma	not applicable	N/A	Guideline	Diagnostic	ALK rearrangement aids in the diagnosis of anaplastic large cell lymphoma (NCCN.org).	detail...
RET fusion	Adenocarcinoma of Unknown Primary	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring RET fusions (NCCN.org).	detail...
MLH1 negative	esophagus squamous cell carcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	pleomorphic xanthoastrocytoma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as an adjuvant treatment for patients with pleomorphic xanthoastrocytoma harboring BRAF V600E (NCCN.org).	detail...
MLH1 negative	chordoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chordoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Cisplatin + Durvalumab + Pemetrexed Disodium + Tremelimumab	Guideline	Actionable	Combination Platinol (cisplatin), Alimta (pemetrexed disodium), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).	detail...
MSH6 negative	chordoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chordoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	neuroendocrine tumor	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) locally advanced or metastatic well-differentiated, Grade 3 neuroendocrine tumors or unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms who have progressed on or following prior treatment (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Azacitidine + Sorafenib	Guideline	Actionable	Nexavar (sorafenib) in combination with Vidaza (azacitidine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MLH1 negative	esophagus squamous cell carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	bone cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a systemic therapy for patients with unresectable or metastatic bone cancer with high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	rectum cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a preferred primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Acalabrutinib + Obinutuzumab	Guideline	Actionable	Calquence (acalabrutinib) combined with Gazyva (obinutuzumab) is indicated in the guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
FLT3 exon18	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
FLT3 exon 14 ins	myelodysplastic syndrome	not applicable	N/A	Guideline	Prognostic	FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with poor prognosis in patients with myelodysplastic syndrome (NCCN.org).	detail...
PMS2 negative	rectum cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
JAK2 mutant	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
RET fusion	cervical cancer	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with cervical cancer harboring RET fusions (NCCN.org).	detail...
BRAF V600E	oncocytic carcinoma of the thyroid	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with thryoid Hürthle cell carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment options (NCCN.org).	detail...
FLT3 exon21	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
ABL1 rearrange	myeloid neoplasm	sensitive	Bosutinib	Guideline	Actionable	Bosulif (bosutinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an ABL1 rearrangement (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Decitabine + Sorafenib	Guideline	Actionable	Nexavar (sorafenib) in combination with Dacogen (decitabine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Atezolizumab	Guideline	Actionable	Tecentriq (atezolizumab) is included in guidelines as adjuvant therapy for non-small cell lung cancer patients with PD-L1 expression >/= 1% and negative for EGFR exon 19 deletion, L858R, or ALK rearrangements who have received prior adjuvant chemotherapy (NCCN.org).	detail...
MSH2 negative	intrahepatic cholangiocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).	detail...
MLH1 negative	esophagus squamous cell carcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	esophagus adenocarcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	esophagus squamous cell carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET V804X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET V804X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
MSH6 negative	pancreatic adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line therapy for mismatch repair-deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) pancreatic adenocarcinoma patients with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), with metastatic disease with good, intermediate, or poor (ECOG 3) PS, and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease (NCCN.org).	detail...
POLE inact mut	colorectal carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline POLE inactivating mutations result in polymerase proofreading-associated polyposis and are associated with increased risk of developing colorectal carcinoma (NCCN.org).	detail...
FLT3 exon18	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
CD274 positive	vaginal carcinoma	sensitive	Cisplatin + Paclitaxel + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with Platinol (cisplatin) and Taxol (paclitaxel) is included in guidelines as preferred first-line therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma with CD274 (PD-L1) expression (CPS >/= 1) (NCCN.org).	detail...
FLT3 exon16	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
BRAF V600K	skin melanoma	sensitive	Dabrafenib + Pembrolizumab + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) plus Mekinist (trametinib) in combination with an immune checkpoint inhibitor, such as Keytruda (pembrolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600K (NCCN.org).	detail...
RET fusion	Squamous Cell Carcinoma of Unknown Primary	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with squamous cell carcinoma of unknown primary harboring RET fusions (NCCN.org).	detail...
POLE inact mut	small intestine adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring POLE inactivating mutations (NCCN.org).	detail...
RET fusion	oncocytic carcinoma of the thyroid	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines for patients with thyroid Hurthle cell carcinoma harboring RET fusions (NCCN.org).	detail...
RET S891X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET S891X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
FLT3 exon17	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
NRAS wild-type	colon cancer	predicted - sensitive	Cetuximab	Guideline	Actionable	Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic colon cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).	detail...
MSH6 negative	esophagus adenocarcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines (category 1) for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MSH6 negative	esophagus squamous cell carcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Ibrutinib	Guideline	Actionable	Imbruvica (ibrutinib) is indicated in the guidelines as first line therapy and second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
MSH6 negative	ovary epithelial cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Methylprednisolone + Rituximab	Guideline	Actionable	Artisone-Wyeth (methylprednisolone) combined with Rituxan (rituximab) is indicated in the guidelines as first-line therapy and second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
NRAS exon4	colon cancer	resistant	Cetuximab	Guideline	Actionable	Erbitux (cetuximab) is not indicated for use in colon cancer patients with NRAS exon 4 mutations (NCCN.org).	detail...
CD274 positive	esophagus adenocarcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 5 (category 1) or with CPS < 5 (category 2B) (NCCN.org).	detail...
MSH2 negative	colon cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	vaginal carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Cemiplimab + Cisplatin + Pemetrexed Disodium	Guideline	Actionable	Combination Platinol (cisplatin), Alimta (pemetrexed disodium), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
BRAF V600E	skin melanoma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in cutaneous melanoma guidelines for patients with metastatic or unresectable disease harboring a BRAF V600 activating mutation (NCCN.org).	detail...
MSH2 negative	intrahepatic cholangiocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).	detail...
FLT3 exon14	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
PMS2 negative	intrahepatic cholangiocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Acalabrutinib + Obinutuzumab	Guideline	Actionable	Calquence (acalabrutinib) combined with Gazyva (obinutuzumab) is indicated in the guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
CTNNB1 mutant	desmoid tumor	not applicable	N/A	Guideline	Diagnostic	CTNNB1 mutations aid the diagnosis of desmoid tumor (NCCN.org).	detail...
TP53 mutant	mantle cell lymphoma	not applicable	N/A	Guideline	Prognostic	TP53 mutations are associated with poor prognosis in patients with mantle cell lymphoma who are treated with conventional therapy, including transplant (NCCN.org).	detail...
MSH6 negative	rectum cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH2 act mut	astrocytoma, IDH-mutant, grade 4	sensitive	Vorasidenib	Guideline	Actionable	Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive WHO grade 4 astrocytoma harboring an IDH2 activating mutation (NCCN.org).	detail...
MSH6 negative	rectum cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a preferred primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FGFR3 fusion	breast cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org).	detail...
BRAF V600E	skin melanoma	sensitive	Binimetinib + Encorafenib	Guideline	Actionable	Braftovi (encorafenib) in combination with Mektovi (binimetinib) is included in guidelines as first-line and second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org).	detail... 30959471
RET fusion	gastroesophageal junction adenocarcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as second-line or subsequent therapy for patients with locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma harboring RET fusions (NCCN.org).	detail...
BRAF V600E/K	skin melanoma	sensitive	Binimetinib + Encorafenib	Guideline	Actionable	Braftovi (encorafenib) in combination with Mektovi (binimetinib) is included in guidelines as first-line and second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org).	30959471 detail...
MSH2 negative	stomach cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
IDH2 mutant	high grade glioma	not applicable	N/A	Guideline	Prognostic	IDH2 mutations are associated with a favorable prognosis in patients with glioma, and are associated with a survival benefit for patients treated with radiation or alkylator therapy (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Cemiplimab + Cisplatin + Pemetrexed Disodium	Guideline	Actionable	Combination Platinol (cisplatin), Alimta (pemetrexed disodium), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
MSH6 mutant	stomach cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).	detail...
PMS2 negative	gastroesophageal junction adenocarcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
JAK3 mutant	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK3 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
ROS1 fusion	skin melanoma	sensitive	Crizotinib	Guideline	Actionable	Xalkori (crizotinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with ROS1 fusions (NCCN.org).	detail...
MSH6 negative	cervical cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with cervical cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ATM mutant	breast cancer	not applicable	N/A	Guideline	Risk Factor	Germline ATM mutations are associated with increased risk of developing breast cancer (NCCN.org).	detail...
MSH6 negative	gallbladder cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).	detail...
BRAF V600X	skin melanoma	sensitive	Atezolizumab + Cobimetinib + Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) plus Cotellic (cobimetinib) in combination with an immune checkpoint inhibitor, such as Tecentriq (atezolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation (NCCN.org).	detail...
PMS2 negative	esophagus adenocarcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	vulva squamous cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic CD274 (PD-L1)-positive (CPS >= 1) vulvar squamous cell carcinoma (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Cemiplimab + Cisplatin + Paclitaxel	Guideline	Actionable	Combination Platinol (cisplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
CD274 over exp	lung squamous cell carcinoma	sensitive	Cemiplimab	Guideline	Actionable	Libtayo (cemiplimab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic lung squamous cell carcinoma with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers; and as continued maintenance therapy (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MLH1 negative	ampulla of Vater adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	gastroesophageal junction adenocarcinoma	sensitive	Capecitabine + Cisplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Platinol (cisplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative gastroesophageal junction adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS >/=1 and <10 (category 2B) (NCCN.org).	detail...
BRAF V600E	glioblastoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent glioblastoma harboring BRAF V600E (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Sorafenib	Guideline	Actionable	Nexavar (sorafenib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
KIT D816V	systemic mastocytosis	not applicable	N/A	Guideline	Diagnostic	KIT D816V aids in the diagnosis of systemic mastocytosis (NCCN.org).	detail...
PMS2 negative	hepatocellular carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) hepatocellular carcinoma (NCCN.org).	detail...
MSH2 negative	testicular germ cell cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	neuroendocrine tumor	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) locally advanced or metastatic well-differentiated, Grade 3 neuroendocrine tumors or unresectable or metastatic extrapulmonary poorly differentiated neuroendocrine carcinoma, large or small cell carcinoma, or mixed neuroendocrine/non-neuroendocrine neoplasms who have progressed on or following prior treatment (NCCN.org).	detail...
BRAF V600E	small intestine adenocarcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines for patients with advanced or metastatic small bowel adenocarcinoma harboring BRAF V600E (NCCN.org).	detail...
RET fusion	intrahepatic cholangiocarcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as primary (category 2B) and subsequent-line therapy (category 2B) for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including intrahepatic cholangiocarcinoma (NCCN.org).	detail...
RET L790X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET L790X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
VHL inact mut	renal cell carcinoma	sensitive	Pazopanib	Guideline	Actionable	Votrient (pazopanib) is included in guidelines as systemic therapy for patients with renal cell carcinoma associated with Von Hippel-Lindau disease (NCCN.org).	detail...
RET fusion	extrahepatic bile duct carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as primary (category 2B) and subsequent-line therapy (category 2B) for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including extrahepatic cholangiocarcinoma (NCCN.org).	detail...
MLH1 negative	intrahepatic cholangiocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).	detail...
NRAS wild-type	rectum cancer	predicted - sensitive	Panitumumab	Guideline	Actionable	Vecitbix (panitumumab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).	detail...
POLE inact mut	rectum cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLE inactivating mutations (NCCN.org).	detail...
POLD1 inact mut	colon cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer harboring POLD1 inactivating mutations (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Carboplatin + Pembrolizumab + Pemetrexed Disodium	Guideline	Actionable	Combination Paraplatin (carboplatin), Alimta (pemetrexed), and Keytruda (pembrolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
CD274 over exp	lung non-small cell carcinoma	sensitive	Atezolizumab	Guideline	Actionable	Tecentriq (atezolizumab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers (NCCN.org).	detail...
MSH2 negative	Adenocarcinoma of Unknown Primary	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	sensitive	Ensartinib	Guideline	Actionable	Ensacove (ensartinib) is included in guidelines as preferred first-line therapy and as subsequent therapy for patients with ALK-rearranged advanced or metastatic non-small cell lung cancer (NCCN.org).	detail...
MSH2 negative	gallbladder cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).	detail...
MSH6 negative	gastroesophageal junction adenocarcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
JAK1 mutant	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK1 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
NRAS mutant	myelofibrosis	not applicable	N/A	Guideline	Prognostic	NRAS mutations are associated with decreased overall survival in patients with primary myelofibrosis (NCCN.org).	detail...
FLT3 exon22	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
RET fusion	medullary thyroid carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as systemic therapy for patients with medullary thyroid carcinoma harboring RET fusions (NCCN.org).	detail...
PMS2 negative	small intestine adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	vaginal carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	esophagus adenocarcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Eloxatin (oxaliplatin), is included in guidelines as preferred first-line therapy for patients with with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression-negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS >/= 1 and <10 (category 2B) (NCCN.org).	detail...
MSH6 negative	endometrial carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line or second-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).	detail...
PMS2 negative	extrahepatic bile duct carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).	detail...
FLT3 exon19	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH6 negative	gallbladder cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).	detail...
MSH2 negative	pancreatic adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) with good (ECOG 0-1), intermediate (ECOG 2) (category 2A), or poor (ECOG 3) (category 2B) performance status who have not received prior immunotherapy (NCCN.org).	detail...
CD274 positive	lung squamous cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung squamous cell carcinoma with CD274 (PD-L1) expression of 1% to 49% and as preferred first-line therapy with CD274 (PD-L1) expression of 50% or more, and negative for actionable molecular biomarkers; and as continued maintenance and subsequent therapy for patients with CD274 (PD-L1) expression of 1% or more (NCCN.org).	detail...
MSH2 negative	esophagus adenocarcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ALK rearrange ALK L1196M	lung non-small cell carcinoma	sensitive	Lorlatinib	Guideline	Actionable	Lorbrena (lorlatinib) is included in guidelines as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer harboring ALK L1196M (NCCN.org).	detail...
CD274 positive	esophagus squamous cell carcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with first-line chemotherapy including Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic esophageal squamous cell carcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) and for patients with CPS <10 (category 2B) (NCCN.org).	detail...
MLH1 negative	colon cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	endometrial carcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as a second-line or subsequent-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org).	detail...
RET fusion	ampulla of Vater adenocarcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as first-line or subsequent therapy for patients with metastatic ampullary adenocarcinoma harboring RET fusions (NCCN.org).	detail...
CD274 positive	nasopharynx carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a subsequent-line therapy for patients with CD274 (PD-L1)-positive, recurrent or metastatic nasopharynx cancer (NCCN.org).	detail...
IDH1 mutant	high grade glioma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of gliomas (PMID: 23041832, PMID: 19755387, PMID: 19915484; NCCN.org).	detail... 23041832 19755387 19915484
PMS2 negative	cervical cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with cervical cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Carboplatin + Ipilimumab + Nivolumab + Pemetrexed Disodium	Guideline	Actionable	Combination Paraplatin (carboplatin), Alimta (pemetrexed), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
CD274 positive	vaginal carcinoma	sensitive	Bevacizumab + Cisplatin + Paclitaxel + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with Platinol (cisplatin), Taxol (paclitaxel), and Avastin (bevacizumab) is included in guidelines as preferred first-line therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma with CD274 (PD-L1) expression (CPS >/= 1) (NCCN.org).	detail...
MLH1 negative	rectum cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 over exp	lung large cell carcinoma	sensitive	Cemiplimab	Guideline	Actionable	Libtayo (cemiplimab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic lung large cell carcinoma with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers; and as continued maintenance therapy (NCCN.org).	detail...
BRAF V600E	skin melanoma	sensitive	Dabrafenib + Pembrolizumab + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) plus Mekinist (trametinib) in combination with an immune checkpoint inhibitor, such as Keytruda (pembrolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600E (NCCN.org).	detail...
BRAF V600E	colon cancer	resistant	Panitumumab	Guideline	Actionable	Vectibix (panitumumab), as a monotherapy, is not indicated for use in colon cancer patients with BRAF V600E (NCCN.org).	detail...
PMS2 negative	gastroesophageal junction adenocarcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
NRAS G12X	myelodysplastic syndrome	not applicable	N/A	Guideline	Prognostic	NRAS G12X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).	detail...
MSH2 negative	stomach cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	small intestine adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	endometrial carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent-line therapy for patients with recurrent or metastatic endometrial carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Quizartinib	Guideline	Actionable	Vanflyta (quizartinib) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MSH6 negative	stomach cancer	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	stomach cancer	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	lung squamous cell carcinoma	sensitive	Carboplatin + Ipilimumab + Nivolumab + Paclitaxel	Guideline	Actionable	Combination Paraplatin (carboplatin), Taxol (paclitaxel), Opdivo (nivolumab), and Yervoy (ipilimumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung squamous cell carcinoma, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
RET fusion	small intestine adenocarcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with metastatic small bowel adenocarcinoma with RET fusion (NCCN.org).	detail...
PMS2 negative	rectum cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a preferred primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	esophagus squamous cell carcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	pancreatic adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) with good (ECOG 0-1), intermediate (ECOG 2) (category 2A), or poor (ECOG 3) (category 2B) performance status who have not received prior immunotherapy (NCCN.org).	detail...
MSH6 negative	Adenocarcinoma of Unknown Primary	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	esophagus squamous cell carcinoma	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 mutant	colon cancer	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org).	detail...
MLH1 mutant	stomach cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org).	detail...
MSH2 mutant	rectum cancer	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org).	detail...
NRAS exon3	colon cancer	resistant	Panitumumab	Guideline	Actionable	Vectibix (panitumumab) is not indicated for use in colon cancer patients with NRAS exon 3 mutations (NCCN.org).	detail...
BRAF V600E	skin melanoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for cutaneous melanoma patients harboring a BRAF V600 mutation, such as BRAF V600E, as neoadjuvant or adjuvant therapy for stage III disease and as systemic therapy for patients with unresectable or metastatic disease (NCCN.org).	detail...
CD274 positive	lung squamous cell carcinoma	sensitive	Carboplatin + Nab-paclitaxel + Pembrolizumab	Guideline	Actionable	Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), and Keytruda (pembrolizumab) is in guidelines as preffered first-line therapy for patients with advanced or metastatic lung squamous cell carcinoma with CD274 (PD-L1) expression of greater than or equal to 1% and negative for actionable molecular biomarkers (NCCN.org).	detail...
BRAF V600X	skin melanoma	sensitive	Binimetinib + Encorafenib	Guideline	Actionable	Mektovi (binimetinib) and Braftovi (encorafenib) combination therapy is included in guidelines as a second-line or subsequent therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 activating mutation (NCCN.org).	detail...
MSH6 negative	esophagus adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 mutant	malignant astrocytoma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of grade II and grade III astrocytomas (NCCN.org).	detail...
CD274 positive	cervical cancer	sensitive	Bevacizumab + Cisplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) combined with Platinol (cisplatin) and Avastin (bevacizumab) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).	detail...
IDH2 mutant	acute myeloid leukemia	sensitive	Cytarabine + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).	detail...
MAP2K1 mutant	Erdheim-Chester disease	sensitive	Cobimetinib	Guideline	Actionable	Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).	detail...
JAK1 rearrange	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK1 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
CD274 positive	vaginal carcinoma	sensitive	Bevacizumab + Carboplatin + Paclitaxel + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with Paraplatin (carboplatin), Taxol (paclitaxel), and Avastin (bevacizumab) is included in guidelines as preferred first-line therapy for patients with recurrent or metastatic vaginal squamous cell carcinoma or adenocarcinoma with CD274 (PD-L1) expression (CPS >/= 1) (NCCN.org).	detail...
TP53 mutant	essential thrombocythemia	not applicable	N/A	Guideline	Prognostic	The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Obinutuzumab + Venetoclax	Guideline	Actionable	The combination of Venclexta (venetoclax) and Gazyva (obinutuzumab) is indicated in the guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
IDH2 mutant	acute myeloid leukemia	sensitive	Azacitidine	Guideline	Actionable	Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).	detail...
BRAF V600E	appendix adenocarcinoma	sensitive	Encorafenib + Panitumumab	Guideline	Actionable	Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines for patients with advanced or metastatic appendiceal adenocarcinoma harboring BRAF V600E (NCCN.org).	detail...
FGFR1 rearrange	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	FGFR1 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
FLT3 exon21	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Idarubicin and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH6 negative	prostate adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with advanced or metastatic prostate adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PTEN mutant	skin melanoma	not applicable	N/A	Guideline	Risk Factor	Germline PTEN mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org).	detail...
FLT3 exon 15 ins	myelodysplastic syndrome	not applicable	N/A	Guideline	Prognostic	FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with poor prognosis in patients with myelodysplastic syndrome (NCCN.org).	detail...
MSH2 negative	stomach cancer	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
ABL1 rearrange	myeloid neoplasm	sensitive	Nilotinib	Guideline	Actionable	Tasigna (nilotinib) is included in guidelines as a preferred regimen for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Pirtobrutinib	Guideline	Actionable	Jaypirca (pirtobrutinib) is included in guidelines as second-line or third-line therapy for patients with chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation and for patients with relapsed or refractory disease after prior BTK inhibitor and Venclexta (venetoclax)-based therapy (NCCN.org).	detail...
MLH1 negative	rectum cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600X	skin melanoma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as a second-line or subsequent therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 activating mutation (NCCN.org).	detail...
PMS2 negative	endometrial carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent-line therapy for patients with recurrent or metastatic endometrial carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ALK rearrange	inflammatory myofibroblastic tumor	sensitive	Lorlatinib	Guideline	Actionable	Lorbrena (lorlatinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).	detail...
MSH6 negative	stomach cancer	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	ganglioglioma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines as an adjuvant treatment for patients with ganglioglioma harboring BRAF V600E (NCCN.org).	detail...
TET2 mutant	angioimmunoblastic T-cell lymphoma	not applicable	N/A	Guideline	Diagnostic	TET2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).	detail...
FGFR3 fusion	lung non-small cell carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
IDH2 act mut	astrocytoma, IDH-mutant, grade 3	sensitive	Vorasidenib	Guideline	Actionable	Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive WHO grade 3 astrocytoma harboring an IDH2 activating mutation (NCCN.org).	detail...
POLD1 inact mut	colon cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLD1 inactivating mutations (NCCN.org).	detail...
FLT3 exon15	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH6 mutant	pancreatic cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).	detail...
MSH2 negative	Squamous Cell Carcinoma of Unknown Primary	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with squamous cell carcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	esophagus squamous cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) esophageal squamous cell carcinoma that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
MLH1 negative	intrahepatic cholangiocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).	detail...
RET fusion	sarcoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as first-line therapy for patients with advanced or metastatic soft tissue sarcoma harboring RET fusions (NCCN.org).	detail...
FGFR1 fusion	breast cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org).	detail...
CD274 over exp	lung adenocarcinoma	sensitive	Atezolizumab	Guideline	Actionable	Tecentriq (atezolizumab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers (NCCN.org).	detail...
MSH6 negative	esophagus squamous cell carcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 mutant	oligodendroglioma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org).	detail...
ALK fusion	Erdheim-Chester disease	sensitive	Brigatinib	Guideline	Actionable	Alunbrig (brigatinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of 1% to 49% and as preferred first-line therapy with CD274 (PD-L1) expression of 50% or more, and negative for actionable molecular biomarkers; and as continued maintenance and subsequent therapy for patients with CD274 (PD-L1) expression of 1% or more (NCCN.org).	detail...
TP53 mutant	nephroblastoma	not applicable	N/A	Guideline	Risk Factor	Germline mutations in TP53 result in Li-Fraumeni syndrome, which is associated with increased risk of developing Wilms tumor (nephroblastoma) (NCCN.org).	detail...
IDH2 mutant	acute myeloid leukemia	sensitive	Azacitidine + Enasidenib	Guideline	Actionable	Idhifa (enasidenib) in combination with Vidaza (azacitidine) is included in guidelines (category 2B) for patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma with CD274 (PD-L1) expression of 1% to 49% and as preferred first-line therapy with CD274 (PD-L1) expression of 50% or more, and negative for actionable molecular biomarkers; and as continued maintenance and subsequent therapy for patients with CD274 (PD-L1) expression of 1% or more (NCCN.org).	detail...
NRAS wild-type	rectum cancer	predicted - sensitive	Cetuximab	Guideline	Actionable	Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).	detail...
PMS2 negative	ovary epithelial cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET fusion	Erdheim-Chester disease	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring RET fusions (NCCN.org).	detail...
BRAF V600K	skin melanoma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in cutaneous melanoma guidelines for patients with metastatic or unresectable disease harboring a BRAF V600 activating mutation (NCCN.org).	detail...
CD274 positive	gastroesophageal junction adenocarcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression negative gastroesophageal junction adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS >/=1 and <10 (category 2B) (NCCN.org).	detail...
PMS2 negative	gallbladder cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including gallbladder cancer (NCCN.org).	detail...
MSH2 negative	stomach cancer	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	lung large cell carcinoma	sensitive	Cisplatin + Durvalumab + Pemetrexed Disodium + Tremelimumab	Guideline	Actionable	Combination Platinol (cisplatin), Alimta (pemetrexed disodium), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic large cell lung cancer, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).	detail...
MLH1 negative	esophagus adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon17	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
NRAS exon4	rectum cancer	resistant	Panitumumab	Guideline	Actionable	Vectibix (panitumumab) is not indicated for use in rectum cancer patients with NRAS exon 4 mutations (NCCN.org).	detail...
MSH6 negative	vulva squamous cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva squamous cell carcinoma (NCCN.org).	detail...
ATM inact mut	prostate cancer	sensitive	Enzalutamide + Talazoparib	Guideline	Actionable	Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic ATM mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org).	detail...
PMS2 negative	esophagus adenocarcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	gastroesophageal junction adenocarcinoma	sensitive	Fluorouracil + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	extrahepatic bile duct carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy (category 2B) for patients with biliary tract cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Carboplatin + Durvalumab + Nab-paclitaxel + Tremelimumab	Guideline	Actionable	Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), Imfinzi (durvalumab), and Imjudo (tremelimumab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma, with CD274 (PD-L1) expression >/=1% - 49% (category 1) or >/= 50% (category 2B), and negative for actionable molecular biomarkers (NCCN.org).	detail...
IDH1 mutant	anaplastic astrocytoma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org).	detail...
ALK rearrange	inflammatory myofibroblastic tumor	sensitive	Alectinib	Guideline	Actionable	Alecensa (alectinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).	detail...
BRAF mutant	splenic marginal zone lymphoma	not applicable	N/A	Guideline	Diagnostic	BRAF mutations aid in the diagnosis of splenic marginal zone lymphoma (NCCN.org).	detail...
KMT2A rearrange	childhood T-cell acute lymphoblastic leukemia	sensitive	Revumenib	Guideline	Actionable	Revuforj (revumenib) is included in guidelines for pediatric patients with relapsed or refractory T-cell acute lymphoblastic leukemia harboring a KMT2A rearrangement (NCCN.org).	detail...
FGFR3 act mut	bladder urothelial carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines as second-line or subsequent-line therapy for patients with advanced or metastatic urothelial carcinoma harboring susceptible FGFR3 alterations (NCCN.org).	detail...
NRAS mutant	Erdheim-Chester disease	sensitive	Trametinib	Guideline	Actionable	Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).	detail...
NRAS exon3	rectum cancer	resistant	Panitumumab	Guideline	Actionable	Vectibix (panitumumab) is not indicated for use in rectum cancer patients with NRAS exon 3 mutations (NCCN.org).	detail...
MLH1 negative	gastroesophageal junction adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
IDH2 mutant	malignant astrocytoma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of grade II and grade III astrocytomas (NCCN.org).	detail...
NRAS exon3	colon cancer	resistant	Cetuximab	Guideline	Actionable	Erbitux (cetuximab) is not indicated for use in colon cancer patients with NRAS exon 3 mutations (NCCN.org).	detail...
RET fusion	oncocytic carcinoma of the thyroid	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with thyroid Hurthle cell carcinoma harboring RET fusions (NCCN.org).	detail...
CD274 positive	lung squamous cell carcinoma	sensitive	Carboplatin + Paclitaxel + Pembrolizumab	Guideline	Actionable	Combination Paraplatin (carboplatin), Taxol (paclitaxel), and Keytruda (pembrolizumab) is in guidelines as preffered first-line therapy for patients with advanced or metastatic lung squamous cell carcinoma with CD274 (PD-L1) expression of greater than or equal to 1% and negative for actionable molecular biomarkers (NCCN.org).	detail...
NRAS exon2	rectum cancer	resistant	Cetuximab	Guideline	Actionable	Erbitux (cetuximab) is not indicated for use in rectum cancer patients with NRAS exon 2 mutations (NCCN.org).	detail...
MSH6 negative	esophagus adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	small intestine adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	sensitive	Alectinib	Guideline	Actionable	Alecensa (alectinib) is included in guidelines as preferred first-line therapy and as subsequent therapy for patients with ALK-rearranged advanced or metastatic non-small cell lung cancer (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Cemiplimab + Cisplatin + Pemetrexed Disodium	Guideline	Actionable	Combination Platinol (cisplatin), Alimta (pemetrexed disodium), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic lung adenocarcinoma, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Cisplatin + Pembrolizumab + Pemetrexed Disodium	Guideline	Actionable	Combination Platinol (cisplatin), Alimta (pemetrexed disodium), and Keytruda (pembrolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic non-small cell lung cancer, not otherwise specified, with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
BRAF fusion	pilocytic astrocytoma	not applicable	N/A	Guideline	Prognostic	BRAF fusions are associated with indolent disease in patients with pilocytic astrocytoma (NCCN.org).	detail...
MSH2 negative	gastroesophageal junction adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Quizartinib	Guideline	Actionable	Vanflyta (quizartinib) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines (category 1) for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
BRAF V600E	oncocytic carcinoma of the thyroid	sensitive	Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) is included in guidelines for patients with recurrent, advanced, or metastatic thyroid Hurthle cell carcinoma harboring BRAF V600E for whom clinical trials are not available or appropriate (NCCN.org).	detail...
CD274 positive	cervical cancer	sensitive	Bevacizumab + Paclitaxel + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) combined with Taxol (paclitaxel) and Avastin (bevacizumab) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).	detail...
POLD1 inact mut	rectum cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLD1 inactivating mutations (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	not applicable	N/A	Guideline	Prognostic	Loss of TP53 is associated with a poor prognosis in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org).	detail...
FGFR2 fusion	lung non-small cell carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Azacitidine + Sorafenib	Guideline	Actionable	Nexavar (sorafenib) in combination with Vidaza (azacitidine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
BRAF V600E	colon cancer	sensitive	Encorafenib + Panitumumab	Guideline	Actionable	Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines as primary or subsequent therapy for patients with colon cancer harboring BRAF V600E (NCCN.org).	detail...
MLH1 negative	vulva squamous cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva squamous cell carcinoma (NCCN.org).	detail...
NRAS G13X	myelodysplastic syndrome	not applicable	N/A	Guideline	Prognostic	NRAS G13X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in the guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
POLD1 inact mut	colon cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLD1 inactivating mutations (NCCN.org).	detail...
IDH1 act mut	oligodendroglioma	sensitive	Vorasidenib	Guideline	Actionable	Voranigo (vorasidenib) is included in guidelines as adjuvant therapy for patients with WHO grade 2 or 3 1p19q codeleted oligodendroglioma harboring an IDH1 activating mutation (NCCN.org).	detail...
RET fusion	papillary thyroid carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as systemic therapy for patients with papillary thyroid carcinoma harboring RET fusions (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Atezolizumab + Carboplatin + Nab-paclitaxel	Guideline	Actionable	Combination Paraplatin (carboplatin), Abraxane (nab-paclitaxel), and Tecetriq (atezolizumab) is in guidelines as first-line therapy for patients with lung adenocarcinoma with CD274 (PD-L1) expression of greater than or equal to 1%, and negative status for EGFR, ALK, ROS1, BRAF, RET, and MET exon 14 skipping mutations (NCCN.org).	detail...
PMS2 negative	oncocytic carcinoma of the thyroid	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with Hurthle cell thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
JAK3 mutant	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK3 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
BRAF V600E	anaplastic astrocytoma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic astrocytoma (NCCN.org).	detail...
MLH1 negative	pancreatic adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line therapy for mismatch repair-deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) pancreatic adenocarcinoma patients with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), with metastatic disease with good, intermediate, or poor (ECOG 3) PS, and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease (NCCN.org).	detail...
FGFR1 fusion	lung non-small cell carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).	detail...
KIT exon9	gastrointestinal stromal tumor	sensitive	Imatinib	Guideline	Actionable	Gleevec (imatinib) is included in guidelines for patients with gastrointestinal stromal tumor (GIST) harboring KIT exon 9 mutations (NCCN.org).	detail...
CD274 positive	stomach cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with first-line chemotherapy including fluoropyrimidine and oxaliplatin, is included in guidelines as preferred first-line therapy for patients with gastric cancer expressing PD-L1 (CD274, CPS>=5), and without ERBB2 (HER2) overexpression (category 1), and as first-line therapy for patients with PD-L1 expression (CD274, CPS <5) and without ERBB2 (HER2) overexpression (category 2B) (NCCN.org).	detail...
NRAS mutant	Erdheim-Chester disease	sensitive	Cobimetinib	Guideline	Actionable	Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).	detail...
CD274 positive	lung adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Combination Opdivo (nivolumab) plus Yervoy (ipilimumab) is in guidelines as first-line or continuation maintenance therapy for advanced or metastatic lung adenocarcinoma patients with CD274 (PD-L1) expression >1% and negative for actionable molecular biomarkers (NCCN.org).	detail...
CD274 positive	lung squamous cell carcinoma	sensitive	Cemiplimab + Cisplatin + Paclitaxel	Guideline	Actionable	Combination Platinol (cisplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic squamous cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
JAK2 V617F	myelofibrosis	not applicable	N/A	Guideline	Prognostic	JAK2 V617F is associated with intermediate prognosis and higher risk of thrombosis when compared to the presence of CALR mutations in patients with primary myelofibrosis (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Quizartinib	Guideline	Actionable	Vanflyta (quizartinib) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MLH1 negative	colon cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon22	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Idarubicin and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
BRAF V600E	follicular thyroid carcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with follicular thyroid carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment options (NCCN.org).	detail...
IDH1 act mut	malignant astrocytoma	sensitive	Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) is included in guidelines for patients with astrocytoma harboring an IDH1 activating mutation (NCCN.org).	detail...
PMS2 negative	esophagus squamous cell carcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	colon cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	rectum cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 over exp	lung squamous cell carcinoma	sensitive	Atezolizumab	Guideline	Actionable	Tecentriq (atezolizumab) is in guidelines as preferred first-line therapy for patients with advanced or metastatic lung squamous cell carcinoma with CD274 (PD-L1) expression of 50% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
BRAF V600E	papillary thyroid carcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with papillary thyroid carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment options (NCCN.org).	detail...
FLT3 exon16	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH6 negative	osteosarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic osteosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	small intestine adenocarcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	predicted - sensitive	Zanubrutinib	Guideline	Actionable	Brukinsa (zanubrutinib) is included in guidelines as first line therapy and second line therapy and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
MSH6 negative	testicular germ cell cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon16	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
TP53 mutant	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	TP53 mutations are associated with poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
KMT2A rearrange	acute myeloid leukemia	not applicable	N/A	Guideline	Prognostic	KMT2A rearrangements (t(v;11q23.3)) are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org).	detail...
MLH1 negative	gastroesophageal junction adenocarcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon17	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH2 negative	bone cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a systemic therapy for patients with unresectable or metastatic bone cancer with high microsatellite instability (MSI-H) or mismatch repair deficiency (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	hepatocellular carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) hepatocellular carcinoma (NCCN.org).	detail...
MSH6 negative	medullary thyroid carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with medullary thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
PMS2 negative	stomach cancer	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
CD274 positive	lung non-small cell carcinoma	sensitive	Carboplatin + Cemiplimab + Paclitaxel	Guideline	Actionable	Combination Paraplatin (carboplatin), Taxol (paclitaxel), and Libtayo (cemiplimab) is in guidelines as first-line therapy for patients with advanced or metastatic non-small cell lung cancer with CD274 (PD-L1) expression of 1% or more, and negative for actionable molecular biomarkers (NCCN.org).	detail...
BRAF V600E	gallbladder cancer	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as subsequent-line therapy for patients with biliary cancer harboring BRAF V600E, including gallbladder cancer (NCCN.org).	detail...
TP53 mutant	acute myeloid leukemia	sensitive	Decitabine	Guideline	Actionable	Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring a TP53 mutation (NCCN.org).	detail...
MLH1 mutant	pancreatic cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).	detail...
TP53 mutant	acute myeloid leukemia	not applicable	N/A	Guideline	Prognostic	TP53 mutations are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Quizartinib	Guideline	Actionable	Vanflyta (quizartinib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
ATM inact mut	prostate cancer	sensitive	Olaparib	Guideline	Actionable	Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in ATM (NCCN.org).	detail...
MSH6 negative	oncocytic carcinoma of the thyroid	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with Hurthle cell thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
RET C620X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET C620X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
BRAF V600E	colon cancer	sensitive	Cetuximab + Encorafenib	Guideline	Actionable	Braftovi (encorafenib) in combination with Erbitux (cetuximab) is included in guidelines as primary or subsequent therapy for patients with colon cancer harboring BRAF V600E (NCCN.org).	detail...
FLT3 exon16	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MLH1 negative	esophagus adenocarcinoma	sensitive	Capecitabine + Nivolumab + Oxaliplatin	Guideline	Actionable	Opdivo (nivolumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon15	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
JAK2 rearrange	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK2 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
MLH1 negative	follicular thyroid carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with follicular thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
IDH1 mutant	acute myeloid leukemia	sensitive	Azacitidine + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) in combination with Vidaza (azacitidine) is included in guidelines (category 1) for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).	detail...
IDH1 act mut	astrocytoma, IDH-mutant, grade 3	sensitive	Vorasidenib	Guideline	Actionable	Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive WHO grade 3 astrocytoma harboring an IDH1 activating mutation (NCCN.org).	detail...
CD274 over exp	lung large cell carcinoma	sensitive	Atezolizumab	Guideline	Actionable	Tecentriq (atezolizumab) is included in guidelines as preferred first-line therapy for patients with advanced or metastatic large cell lung cancer with CD274 (PD-L1) expression of at least 50% and negative for actionable molecular biomarkers (NCCN.org).	detail...
CD274 positive	cervical cancer	sensitive	Bevacizumab + Carboplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) combined with Paraplatin (carboplatin) and Avastin (bevacizumab) is included in guidelines as first-line therapy for patients with CD274 (PD-L1)-positive cervical cancer (NCCN.org).	detail...
ABL1 rearrange	myeloid neoplasm	sensitive	Ponatinib	Guideline	Actionable	Iclusig (ponatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an ABL1 rearrangement (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	not applicable	N/A	Guideline	Prognostic	FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with inferior prognosis in acute myeloid leukemia patients with normal karyotype (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	sensitive	Crizotinib	Guideline	Actionable	Xalkori (crizotinib) is included in guidelines as first-line therapy for ALK rearranged non-small cell lung cancer (NCCN.org).	detail...
BRAF wild-type	rectum cancer	predicted - sensitive	Cetuximab	Guideline	Actionable	Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).	detail...
CD274 positive	esophagus adenocarcinoma	sensitive	Capecitabine + Cisplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) in combination with first-line chemotherapy including Xeloda (capecitabine) and Platinol (cisplatin) is included in guidelines as preferred first-line therapy for patients with locally advanced, recurrent, or metastatic ERBB2 (HER2) overexpression-negative esophageal adenocarcinoma expressing PD-L1 (CD274) with CPS >/= 10 (category 1) or with CPS >/= 1 and <10 (category 2B) (NCCN.org).	detail...
CD274 positive	vulva adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic CD274 (PD-L1)-positive (CPS >= 1) vulvar adenocarcinoma (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Zanubrutinib	Guideline	Actionable	Brukinsa (zanubrutinib) is included in guidelines as first line therapy and second line therapy and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
BRAF V600E	rectum cancer	resistant	Cetuximab	Guideline	Actionable	Erbitux (cetuximab), as a monotherapy, is not indicated for use in rectum cancer patients with BRAF V600E (NCCN.org).	detail...
FLT3 exon23	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH2 negative	breast cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines for patients with metastatic or unresectable breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	not applicable	N/A	Guideline	Prognostic	TP53 mutations are associated with a poor prognosis in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org).	detail...
IDH2 mutant	polycythemia vera	not applicable	N/A	Guideline	Prognostic	IDH2 mutations are associated with inferior overall survival and leukemia-free survival in patients with polycythemia vera (NCCN.org).	detail...
FLT3 rearrange	myeloid neoplasm	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).	detail...
FLT3 exon15	acute myeloid leukemia	sensitive	Cytarabine + Idarubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Idamycin (idarubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
IDH2 mutant	oligodendroglioma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org).	detail...
BRAF V600E	Erdheim-Chester disease	sensitive	Dabrafenib	Guideline	Actionable	Tafinlar (dabrafenib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring BRAF V600E (NCCN.org).	detail...
FLT3 exon15	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH6 negative	hepatocellular carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) hepatocellular carcinoma (NCCN.org).	detail...
MSH2 negative	chordoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chordoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
JAK2 V617F	polycythemia vera	not applicable	N/A	Guideline	Diagnostic	JAK2 V617F aids in the diagnosis of polycythemia vera (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	not applicable	N/A	Guideline	Prognostic	FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with inferior prognosis in acute myeloid leukemia patients with normal karyotype (NCCN.org).	detail...
FLT3 exon17	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
ROS1 rearrange	lung non-small cell carcinoma	sensitive	Repotrectinib	Guideline	Actionable	Augtyro (repotrectinib) is included in guidelines as first-line or subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring a ROS1 rearrangement (NCCN.org).	detail...
RET C630X	medullary thyroid carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET C630X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
MSH6 negative	stomach cancer	sensitive	Durvalumab + Tremelimumab	Guideline	Actionable	Imfinzi (durvalumab), in combination with Imjudo (tremelimumab, is included in guidelines as neoadjuvant therapy for patients with gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	extrahepatic bile duct carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including extrahepatic cholangiocarcinoma (NCCN.org).	detail...
ALK rearrange	anaplastic large cell lymphoma	sensitive	Brigatinib	Guideline	Actionable	Alunbrig (brigatinib) is included in guidelines as initial, second-line, and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org).	detail...
MLH1 negative	gastroesophageal junction adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
PMS2 negative	small intestine adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	esophagus adenocarcinoma	sensitive	Capecitabine + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH2 negative	follicular thyroid carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with follicular thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
RET rearrange	lung non-small cell carcinoma	sensitive	Cabozantinib	Guideline	Actionable	Cometriq (cabozantinib) is in guidelines as subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (NCCN.org).	detail...
ABL1 rearrange	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	ABL1 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
FLT3 exon21	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MSH6 negative	gastroesophageal junction adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line, second-line, or subsequent therapy for patients with microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
KIT act mut	skin melanoma	sensitive	Ripretinib	Guideline	Actionable	Qinlock (ripretinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).	detail...

Reference Detail

Contact

Filtering

Sorting