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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
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	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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
FGFR3 act mut	bladder urothelial carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring susceptible Fgfr3 alterations after progression on platinum-based regimens (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...
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...
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 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...
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...
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...
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...
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 wild-type	IDH-wildtype glioblastoma	not applicable	N/A	Guideline	Diagnostic	Wild-type IDH1 aids in the diagnosis of glioblastoma (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
IDH1 mutant	acute myeloid leukemia	sensitive	Azacitidine + Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) in combination with Vidaza (azacitidine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (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...
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...
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...
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...
RAD51D 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 RAD51D (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...
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...
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...
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...
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...
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...
CHEK2 mutant	breast cancer	not applicable	N/A	Guideline	Risk Factor	Germline CHEK2 mutations are associated with increased risk of developing breast cancer (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 (NCCN.org).	detail...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Gefitinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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...
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...
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...
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...
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...
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...
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...
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...
CHEK2 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 CHEK2 (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...
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	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...
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...
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...
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...
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...
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...
MLH1 negative	pancreatic adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with 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	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	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...
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...
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...
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...
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...
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...
SMARCB1 inact mut	epithelioid sarcoma	not applicable	N/A	Guideline	Diagnostic	SMARCB1 inactivating mutations aid the diagnosis of epithelioid sarcoma (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...
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...
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...
IDH1 mutant	myelodysplastic syndrome	sensitive	Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) is included in guidelines for patients with myelodysplastic syndrome harboring an IDH1 mutation who progressed or failed to respond to prior treatment (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
IDH2 act mut	oligodendroglioma	sensitive	Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) is included in guidelines for patients with oligodendroglioma harboring an IDH2 activating mutation (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...
CTNNB1 mutant	desmoid tumor	not applicable	N/A	Guideline	Diagnostic	CTNNB1 mutations aid the diagnosis of desmoid tumor (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	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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
RAD51D mutant	breast cancer	not applicable	N/A	Guideline	Risk Factor	Germline RAD51D mutations are associated with increased risk of developing breast cancer (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...
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...
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...
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...
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...
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...
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...
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...
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...
IDH2 act mut	oligodendroglioma	sensitive	Vorasidenib	Guideline	Actionable	Voranigo (vorasidenib) is included in guidelines as adjuvant therapy for patients with WHO grade 2 1p19q codeleted oligodendroglioma harboring an IDH2 activating mutation (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...
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...
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...
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...
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...
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...
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...
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	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...
RAD51C 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 RAD51C (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...
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...
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...
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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Brigatinib	Guideline	Actionable	Alunbrig (brigatinib) is not indicated for use in ROS1 rearranged non-small cell lung cancer patients whose disease became resistant to Xalkori (crizotinib) (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...
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...
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...
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...
RET fusion	pancreatic adenocarcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma harboring RET fusions (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...
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 patients with locally advanced (category 2A) or metastatic (category 2B) pancreatic adenocarcinoma harboring BRAF V600E, and as subsequent-line therapy for patients with locally advanced, recurrent, or metastatic disease (category 2A) (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...
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...
RAD51C mutant	ovarian cancer	not applicable	N/A	Guideline	Risk Factor	Germline RAD51C mutations are associated with increased risk of developing ovarian 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...
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...
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) who have not received prior immunotherapy (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...
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...
RET rearrange	lung non-small cell carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as a first-line and subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (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...
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...
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...
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...
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...
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...
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	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...
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...
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...
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...
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...
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	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...
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...
IDH1 mutant	anaplastic astrocytoma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of grade III astrocytomas (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	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	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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
CHEK1 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 CHEK1 (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...
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...
RAD51C mutant	breast cancer	not applicable	N/A	Guideline	Risk Factor	Germline RAD51C mutations are associated with increased risk of developing breast 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...
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...
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...
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...
KIT D816V	systemic mastocytosis	not applicable	N/A	Guideline	Diagnostic	KIT D816V aids in the diagnosis of systemic mastocytosis (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...
SMARCB1 inact mut	rhabdoid cancer	not applicable	N/A	Guideline	Diagnostic	SMARCB1 inactivating mutations aid the diagnosis of extrarenal rhabdoid tumor (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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
ALK rearrange	lung non-small cell carcinoma	no benefit	Gefitinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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...
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...
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...
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...
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...
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...
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...
IDH1 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 IDH1 mutation (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
CHEK2 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 CHEK2 mutation who have not been treated in the setting of castration-resistant prostate cancer (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...
FGFR3 mutant	transitional cell carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr3 alterations after progression on platinum-based regimens (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
RET rearrange	lung non-small cell carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is in guidelines as a first-line and subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (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...
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...
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...
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...
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	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...
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...
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...
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...
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...
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...
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...
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	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...
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...
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...
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...
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 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...
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...
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...
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...
IDH1 act mut	oligodendroglioma	sensitive	Vorasidenib	Guideline	Actionable	Voranigo (vorasidenib) is included in guidelines as adjuvant therapy for patients with WHO grade 2 1p19q codeleted oligodendroglioma harboring an IDH1 activating mutation (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...
RAD54L 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 RAD54L (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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
TSC1 inact mut	islet cell tumor	not applicable	N/A	Guideline	Risk Factor	Germline inactivating mutations in TSC1 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing pancreatic neuroendocrine tumors (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...
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...
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...
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	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...
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...
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...
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...
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...
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...
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...
IDH2 mutant	high grade glioma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of gliomas (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...
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...
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...
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...
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...
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...
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	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...
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...
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...
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...
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...
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...
ALK rearrange	lung non-small cell carcinoma	no benefit	Afatinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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...
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...
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 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...
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...
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	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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Osimertinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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...
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...
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...
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...
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...
RAD51C 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 RAD51C mutation who have not been treated in the setting of castration-resistant prostate cancer (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
CHEK2 mutant	prostate cancer	not applicable	N/A	Guideline	Risk Factor	Germline CHEK2 mutations are associated with increased risk of developing prostate cancer (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...
RET rearrange	lung non-small cell carcinoma	sensitive	Cabozantinib	Guideline	Actionable	Cometriq (cabozantinib) is in guidelines as a first-line and subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (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...
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...
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...
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...
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...
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...
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
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...
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...
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...
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...
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...
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...
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...
IDH2 mutant	anaplastic astrocytoma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of grade III astrocytomas (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...
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...
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...
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...
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...
IDH1 mutant	oligodendroglioma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org).	detail...
ROS1 rearrange	lung non-small cell carcinoma	sensitive	Ceritinib	Guideline	Actionable	Zykadia (ceritinib) is included in guidelines as first-line therapy for ROS1-rearranged non-small cell lung cancer, but is not indicated after patients become resistant to Xalkori (crizotinib) (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	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...
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...
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...
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) who have not received prior immunotherapy (NCCN.org).	detail...
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	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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Afatinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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...
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	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...
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...
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...
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...
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	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...
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...
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...
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...
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...
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...
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...
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...
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...
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	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...
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...
IDH2 mutant	oligodendroglioma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org).	detail...
MSH6 negative	vulva cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva cancer (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...
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...
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...
RAD51D mutant	ovarian cancer	not applicable	N/A	Guideline	Risk Factor	Germline RAD51D mutations are associated with increased risk of developing ovarian cancer (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	no benefit	Osimertinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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...
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...
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...
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...
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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Alectinib	Guideline	Actionable	Alecensa (alectinib) is not indicated for use in ROS1 rearranged non-small cell lung cancer patients whose disease became resistant to Xalkori (crizotinib) (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
ALK rearrange	lung non-small cell carcinoma	no benefit	Erlotinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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	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...
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...
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...
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...
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...
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...
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	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...
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...
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...
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...
RAD51B 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 RAD51B (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 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...
MSH6 negative	pancreatic adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic 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	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...
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	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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
JAK2 mutant	essential thrombocythemia	not applicable	N/A	Guideline	Diagnostic	JAK2 mutations aid in the diagnosis of essential thrombocythemia (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...
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...
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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Erlotinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (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 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...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
JAK2 mutant	myelofibrosis	not applicable	N/A	Guideline	Diagnostic	JAK2 mutations aid in the diagnosis of primary myelofibrosis (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...
SMARCB1 del	epithelioid sarcoma	not applicable	N/A	Guideline	Diagnostic	SMARCB1 deletion aids the diagnosis of epithelioid sarcoma (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...
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...
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...
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...
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...
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 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 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...
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...
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...
MLH1 negative	vulva cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva 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...
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...
APC mutant	desmoid tumor	not applicable	N/A	Guideline	Diagnostic	APC mutations aid the diagnosis of desmoid tumor (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...
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...
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
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
JAK2 V617F	polycythemia vera	not applicable	N/A	Guideline	Diagnostic	JAK2 V617F aids in the diagnosis of polycythemia vera (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...
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	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	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...
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...
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...
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...
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	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...
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...
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...
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	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...
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...
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...
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...
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...
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...
TSC1 inact mut	clear cell renal cell carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline inactivating mutations in TSC1 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing clear cell renal cell carcinoma (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...
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...
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...
IDH2 act mut	malignant astrocytoma	sensitive	Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) is included in guidelines for patients with astrocytoma harboring an IDH2 activating mutation (NCCN.org).	detail...
TSC2 inact mut	clear cell renal cell carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline inactivating mutations in TSC2 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing clear cell renal cell carcinoma (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...
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...
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...
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...
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...
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...
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...
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	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...
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...
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...
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...
BRAF fusion	pilocytic astrocytoma	not applicable	N/A	Guideline	Diagnostic	BRAF fusions aid in the diagnosis of pilocytic astrocytoma (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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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
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...
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...
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...
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...
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...
TSC2 inact mut	islet cell tumor	not applicable	N/A	Guideline	Risk Factor	Germline inactivating mutations in TSC2 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing pancreatic neuroendocrine tumors (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...
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...
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...
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	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...
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...
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...
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...
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...
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...
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...
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...

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