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Title | NCCN.org | ||||||||||||
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URL | https://www.nccn.org/professionals/physician_gls/default.aspx | ||||||||||||
Abstract Text |
Molecular Profile | Treatment Approach |
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ABL1 rearrange | ABL Inhibitor (pan) |
Gene Name | Source | Synonyms | Protein Domains | Gene Description | Gene Role |
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No data available in table |
Therapy Name | Drugs | Efficacy Evidence | Clinical Trials |
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No data available in table |
Drug Name | Trade Name | Synonyms | Drug Classes | Drug Description |
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No data available in table |
Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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No data available in table |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
ALK rearrange | lung non-small cell carcinoma | sensitive | Ensartinib | Guideline | Actionable | Ensacove (ensartinib) is included in guidelines as preferred first-line therapy and as subsequent therapy for patients with ALK-rearranged advanced or metastatic non-small cell lung cancer (NCCN.org). | detail... |
ALK rearrange | high grade glioma | sensitive | Lorlatinib | Guideline | Actionable | Lorbrena (lorlatinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring ALK rearrangement, or as a preferred regimen for patients with recurrent or progressive disease (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... |
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... |
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... |
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 | 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... |
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... |
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... |
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... |
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... |
ALK rearrange | high grade glioma | sensitive | Alectinib | Guideline | Actionable | Alecensa (alectinib) is included in guidelines as adjuvant therapy for pediatric patients with diffuse high-grade gliomas harboring ALK rearrangement, or as a preferred regimen for patients with recurrent or progressive disease (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... |
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... |
ALK rearrange | anaplastic large cell lymphoma | not applicable | N/A | Guideline | Prognostic | The presence of ALK rearrangement is associated with a favorable prognosis in patients with anaplastic large cell lymphoma (NCCN.org). | detail... |
ALK 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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
APC mutant | desmoid tumor | not applicable | N/A | Guideline | Diagnostic | APC mutations aid the diagnosis of desmoid tumor (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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
ATRX loss IDH1 mut | malignant astrocytoma | not applicable | N/A | Guideline | Diagnostic | ATRX deficiency in combination with IDH mutation aids in the diagnosis of astrocytoma (NCCN.org). | detail... |
ATRX loss IDH2 mut | malignant astrocytoma | not applicable | N/A | Guideline | Diagnostic | ATRX deficiency in combination with IDH mutation aids in the diagnosis of astrocytoma (NCCN.org). | detail... |
ATRX mutant | high grade glioma | not applicable | N/A | Guideline | Diagnostic | ATRX mutations aid in the diagnosis of gliomas (NCCN.org). | detail... |
BARD1 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 BARD1 (NCCN.org). | detail... |
BARD1 mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline BARD1 mutations are associated with increased risk of developing breast cancer (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... |
BRAF fusion | pilocytic astrocytoma | not applicable | N/A | Guideline | Diagnostic | BRAF fusions aid in the diagnosis of pilocytic astrocytoma (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... |
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... |
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... |
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... |
BRAF V600E | skin melanoma | sensitive | Dabrafenib | Guideline | Actionable | Tafinlar (dabrafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600E, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org). | detail... |
BRAF V600E | low grade glioma | sensitive | Dabrafenib + Trametinib | Guideline | Actionable | Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent or progressive low grade glioma harboring BRAF V600E (NCCN.org). | detail... |
BRAF V600E | 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... |
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... |
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 | 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... |
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 | 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... |
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... |
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 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... |
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... |
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... |
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... |
BRAF V600E | rectum cancer | sensitive | Cetuximab + Encorafenib + Fluorouracil + Leucovorin + Oxaliplatin | Guideline | Actionable | Braftovi (encorafenib) in combination with Erbitux (cetuximab) and FOLFOX is included in guidelines as initial (category 2A) or subsequent-line (category 2B) therapy for patients with advanced or metastatic rectal cancer harboring BRAF V600E (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 |
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... |
BRAF V600E | biliary tract cancer | sensitive | Dabrafenib + Trametinib | Guideline | Actionable | Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as subsequent-line therapy for patients with biliary tract cancer harboring BRAF V600E, including intrahepatic cholangiocarcinoma, extrahepatic cholangiocarcinoma, and gallbladder cancer (NCCN.org). | detail... |
BRAF V600E | pancreatic adenocarcinoma | sensitive | Dabrafenib + Trametinib | Guideline | Actionable | Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as first-line therapy for pancreatic adenocarcinoma patients harboring BRAF V600E with locally advanced disease (category 2A) with good (ECOG 0-1) or intermediate (ECOG 2) performance status, as first-line therapy in patients metastatic disease (category 2B) disease, and as subsequent-line therapy for patients with locally advanced, recurrent, or metastatic disease (category 2A) (NCCN.org). | detail... |
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... |
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... |
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... |
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... |
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 | 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... |
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... |
BRAF V600E | skin melanoma | sensitive | Dabrafenib + Pembrolizumab + Trametinib | Guideline | Actionable | Tafinlar (dabrafenib) plus Mekinist (trametinib) in combination with an immune checkpoint inhibitor, such as Keytruda (pembrolizumab), is included in guidelines as second-line or subsequent therapy (category 2A) for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation, such as BRAF V600E (NCCN.org). | detail... |
BRAF V600E | 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... |
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... |
BRAF V600E | colon cancer | sensitive | Encorafenib + Fluorouracil + Leucovorin + Oxaliplatin + Panitumumab | Guideline | Actionable | Braftovi (encorafenib) in combination with Vectibix (panitumumab) and FOLFOX is included in guidelines as initial (category 2A) or subsequent-line (category 2B) therapy for patients with advanced or metastatic colon cancer harboring BRAF V600E (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 | 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... |
BRAF V600E | anaplastic astrocytoma | sensitive | Dabrafenib + Trametinib | Guideline | Actionable | Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic astrocytoma (NCCN.org). | detail... |
BRAF V600E | 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... |
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... |
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... |
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... |
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 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... |
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... |
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 |
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... |
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... |
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... |
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... |
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... |
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... |
BRAF V600E | rectum cancer | sensitive | Encorafenib + Fluorouracil + Leucovorin + Oxaliplatin + Panitumumab | Guideline | Actionable | Braftovi (encorafenib) in combination with Vectibix (panitumumab) and FOLFOX is included in guidelines as initial (category 2A) or subsequent-line (category 2B) therapy for patients with advanced or metastatic rectal cancer harboring BRAF V600E (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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
BRAF V600E | colon cancer | sensitive | Cetuximab + Encorafenib + Fluorouracil + Leucovorin + Oxaliplatin | Guideline | Actionable | Braftovi (encorafenib) in combination with Erbitux (cetuximab) and FOLFOX is included in guidelines as initial (category 2A) or subsequent-line (category 2B) therapy for patients with advanced or metastatic colon cancer harboring BRAF V600E (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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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 | 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... |
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... |
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... |
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 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... |
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 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... |
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... |
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 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... |
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... |
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... |
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... |
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... |
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 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... |
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... |
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... |
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 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... |
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... |
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... |
BRIP1 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 BRIP1 (NCCN.org). | detail... |
BRIP1 mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline BRIP1 mutations are associated with increased risk of developing ovarian cancer (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... |
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... |
CDK12 inact mut | prostate cancer | sensitive | Enzalutamide + Talazoparib | Guideline | Actionable | Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic CDK12 mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org). | detail... |
CDK12 inact mut | prostate cancer | sensitive | Olaparib | Guideline | Actionable | Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in CDK12 (NCCN.org). | detail... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
CTNNB1 mutant | desmoid tumor | not applicable | N/A | Guideline | Diagnostic | CTNNB1 mutations aid the diagnosis of desmoid tumor (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... |
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... |
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... |
FANCA 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 FANCA mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org). | detail... |
FANCL 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 FANCL (NCCN.org). | detail... |
FGFR1 act mut | supraglottis cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 act mut | breast cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org). | detail... |
FGFR1 act mut | ethmoid sinus cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 act mut | hypopharynx cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 act mut | maxillary sinus cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 act mut | lung non-small cell carcinoma | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org). | detail... |
FGFR1 act mut | salivary gland cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org). | detail... |
FGFR1 act mut | oral cavity cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 act mut | oropharynx cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 act mut | glottis cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 fusion | lung non-small cell carcinoma | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org). | detail... |
FGFR1 fusion | ethmoid sinus cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 fusion | breast cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org). | detail... |
FGFR1 fusion | maxillary sinus cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 fusion | supraglottis cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 fusion | hypopharynx cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 fusion | salivary gland cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org). | detail... |
FGFR1 fusion | glottis cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 fusion | oral cavity cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR1 fusion | oropharynx cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (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... |
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... |
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... |
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... |
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... |
FGFR2 act mut | ethmoid sinus cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR2 act mut | oral cavity cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR2 act mut | breast cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org). | detail... |
FGFR2 act mut | glottis cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR2 act mut | hypopharynx cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR2 act mut | oropharynx cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR2 act mut | supraglottis cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR2 act mut | lung non-small cell carcinoma | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org). | detail... |
FGFR2 act mut | salivary gland cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org). | detail... |
FGFR2 act mut | maxillary sinus cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR2 fusion | breast cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org). | detail... |
FGFR2 fusion | glottis cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR2 fusion | oral cavity cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR2 fusion | supraglottis cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (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... |
FGFR2 fusion | oropharynx cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR2 fusion | ethmoid sinus cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR2 fusion | maxillary sinus cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (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... |
FGFR2 fusion | pancreatic adenocarcinoma | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent therapy for patients with recurrent or locally advanced, metastatic pancreatic adenocarcinoma harboring an FGFR2 fusion with good (ECOG 0-1), intermediate (ECOG 2), or poor (ECOG 3) performance status (NCCN.org). | detail... |
FGFR2 fusion | salivary gland cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org). | detail... |
FGFR2 fusion | lung non-small cell carcinoma | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org). | detail... |
FGFR2 fusion | hypopharynx cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (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... |
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... |
FGFR3 act mut | transitional cell carcinoma | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as second-line or subsequent-line therapy for patients with advanced or metastatic urothelial carcinoma harboring susceptible FGFR3 alterations (NCCN.org). | detail... |
FGFR3 act mut | bladder urothelial carcinoma | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as second-line or subsequent-line therapy for patients with advanced or metastatic urothelial carcinoma harboring susceptible FGFR3 alterations (NCCN.org). | detail... |
FGFR3 act mut | supraglottis cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 act mut | ethmoid sinus cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 act mut | glottis cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 act mut | maxillary sinus cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 act mut | lung non-small cell carcinoma | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org). | detail... |
FGFR3 act mut | breast cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org). | detail... |
FGFR3 act mut | salivary gland cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org). | detail... |
FGFR3 act mut | oropharynx cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 act mut | oral cavity cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 act mut | hypopharynx cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 fusion | breast cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org). | detail... |
FGFR3 fusion | ethmoid sinus cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 fusion | supraglottis cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 fusion | salivary gland cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org). | detail... |
FGFR3 fusion | oral cavity cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 fusion | maxillary sinus cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 fusion | hypopharynx cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 fusion | glottis cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org). | detail... |
FGFR3 fusion | lung non-small cell carcinoma | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org). | detail... |
FGFR3 fusion | oropharynx cancer | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (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... |
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... |
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... |
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 exon 14 ins | acute myeloid leukemia | sensitive | Sorafenib | Guideline | Actionable | Nexavar (sorafenib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org). | detail... |
FLT3 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... |
FLT3 exon 14 ins | acute myeloid leukemia | not applicable | N/A | Guideline | Prognostic | FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with inferior prognosis in acute myeloid leukemia patients with normal karyotype (NCCN.org). | detail... |
FLT3 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... |
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... |
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... |
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... |
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 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... |
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... |
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... |
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 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 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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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 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... |
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... |
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... |
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 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... |
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... |
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 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... |
FLT3 exon18 | acute myeloid leukemia | sensitive | Cytarabine + Midostaurin | Guideline | Actionable | Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). | detail... |
FLT3 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... |
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 exon18 | acute myeloid leukemia | sensitive | Cytarabine + Daunorubicin + Midostaurin | Guideline | Actionable | Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). | detail... |
FLT3 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... |
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 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 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... |
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... |
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 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 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... |
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... |
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... |
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... |
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... |
FLT3 exon21 | acute myeloid leukemia | sensitive | Cytarabine + Idarubicin + Midostaurin | Guideline | Actionable | Rydapt (midostaurin) in combination with Idarubicin and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). | detail... |
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... |
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 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... |
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... |
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... |
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... |
FLT3 exon22 | acute myeloid leukemia | sensitive | Cytarabine + Idarubicin + Midostaurin | Guideline | Actionable | Rydapt (midostaurin) in combination with Idarubicin and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). | detail... |
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 | 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 exon23 | acute myeloid leukemia | sensitive | Cytarabine + Idarubicin + Midostaurin | Guideline | Actionable | Rydapt (midostaurin) in combination with Idarubicin and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). | detail... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
FLT3 rearrange | myeloid neoplasm | sensitive | Quizartinib | Guideline | Actionable | Vanflyta (quizartinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org). | detail... |
FLT3 rearrange | myeloid neoplasm | sensitive | Gilteritinib | Guideline | Actionable | Xospata (gilteritinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org). | detail... |
FLT3 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 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... |
IDH1 act mut | astrocytoma, IDH-mutant, grade 4 | sensitive | Vorasidenib | Guideline | Actionable | Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive WHO grade 4 astrocytoma harboring an IDH1 activating mutation (NCCN.org). | detail... |
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... |
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 | malignant astrocytoma | sensitive | Ivosidenib | Guideline | Actionable | Tibsovo (ivosidenib) is included in guidelines for patients with astrocytoma harboring an IDH1 activating mutation (NCCN.org). | detail... |
IDH1 act mut | oligodendroglioma | sensitive | Vorasidenib | Guideline | Actionable | Voranigo (vorasidenib) is included in guidelines as adjuvant therapy for patients with WHO grade 2 or 3 1p19q codeleted oligodendroglioma harboring an IDH1 activating mutation (NCCN.org). | detail... |
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... |
IDH1 act mut | astrocytoma, IDH-mutant, grade 3 | sensitive | Vorasidenib | Guideline | Actionable | Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive WHO grade 3 astrocytoma harboring an IDH1 activating mutation (NCCN.org). | detail... |
IDH1 mutant | myelodysplastic syndrome | sensitive | Ivosidenib | Guideline | Actionable | Tibsovo (ivosidenib) with or without Vidaza (azacitidine) is included in guidelines (category 2B) for patients with myelodysplastic syndrome harboring an IDH1 mutation (NCCN.org). | detail... |
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... |
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... |
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... |
IDH1 mutant | acute myeloid leukemia | sensitive | Decitabine | Guideline | Actionable | Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). | detail... |
IDH1 mutant | 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... |
IDH1 mutant | acute myeloid leukemia | sensitive | Azacitidine + Venetoclax | Guideline | Actionable | Venclexta (venetoclax) in combination with Vidaza (azacitidine) is included in guidelines (category 1) for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). | detail... |
IDH1 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... |
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... |
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... |
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 |
IDH1 mutant | anaplastic astrocytoma | not applicable | N/A | Guideline | Diagnostic | IDH1 mutations aid in the diagnosis of grade III astrocytomas (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... |
IDH1 mutant | acute myeloid leukemia | sensitive | Azacitidine + Ivosidenib | Guideline | Actionable | Tibsovo (ivosidenib) in combination with Vidaza (azacitidine) is included in guidelines. (category 1) for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). | detail... |
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... |
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... |
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... |
IDH1 mutant | myelodysplastic syndrome | sensitive | Olutasidenib | Guideline | Actionable | Rezlidhia (olutasidenib) with or without Vidaza (azacitidine) is included in guidelines (category 2B) for patients with myelodysplastic syndrome harboring an IDH1 mutation (NCCN.org). | detail... |
IDH1 mutant | oligodendroglioma | not applicable | N/A | Guideline | Diagnostic | IDH1 mutations aid in the diagnosis of oligodendrogliomas (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... |
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... |
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... |
IDH1 wild-type | IDH-wildtype glioblastoma | not applicable | N/A | Guideline | Diagnostic | Wild-type IDH1 aids in the diagnosis of glioblastoma (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... |
IDH2 act mut | astrocytoma, IDH-mutant, grade 4 | sensitive | Vorasidenib | Guideline | Actionable | Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive WHO grade 4 astrocytoma harboring an IDH2 activating mutation (NCCN.org). | detail... |
IDH2 act mut | astrocytoma, IDH-mutant, grade 3 | sensitive | Vorasidenib | Guideline | Actionable | Voranigo (vorasidenib) is included in guidelines for patients with recurrent or progressive WHO grade 3 astrocytoma harboring an IDH2 activating mutation (NCCN.org). | detail... |
IDH2 act mut | oligodendroglioma | sensitive | Vorasidenib | Guideline | Actionable | Voranigo (vorasidenib) is included in guidelines as adjuvant therapy for patients with WHO grade 2 or 3 1p19q codeleted oligodendroglioma harboring an IDH2 activating mutation (NCCN.org). | detail... |
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... |
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... |
IDH2 mutant | anaplastic astrocytoma | not applicable | N/A | Guideline | Diagnostic | IDH2 mutations aid in the diagnosis of grade III astrocytomas (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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
IDH2 mutant | oligodendroglioma | not applicable | N/A | Guideline | Diagnostic | IDH2 mutations aid in the diagnosis of oligodendrogliomas (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... |
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... |
IDH2 wild-type | IDH-wildtype glioblastoma | not applicable | N/A | Guideline | Diagnostic | Wild-type IDH2 aids in the diagnosis of glioblastoma (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... |
JAK2 exon12 | polycythemia vera | not applicable | N/A | Guideline | Diagnostic | JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (NCCN.org). | detail... |
JAK2 mutant | B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |
JAK2 mutant | myelofibrosis | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of primary myelofibrosis (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... |
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... |
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... |
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... |
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... |
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... |
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... |
JAK2 V617F | polycythemia vera | not applicable | N/A | Guideline | Diagnostic | JAK2 V617F aids in the diagnosis of polycythemia vera (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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
KIT D816V | systemic mastocytosis | not applicable | N/A | Guideline | Diagnostic | KIT D816V aids in the diagnosis of systemic mastocytosis (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... |
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... |
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... |
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... |
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... |
KMT2A rearrange | T-cell acute lymphoblastic leukemia | sensitive | Revumenib | Guideline | Actionable | Revuforj (revumenib) is included in guidelines for patients with relapsed or refractory T-cell acute lymphoblastic leukemia harboring a KMT2A rearrangement (NCCN.org). | detail... |
KMT2A rearrange | childhood T-cell acute lymphoblastic leukemia | sensitive | Revumenib | Guideline | Actionable | Revuforj (revumenib) is included in guidelines for pediatric patients with relapsed or refractory T-cell acute lymphoblastic leukemia harboring a KMT2A rearrangement (NCCN.org). | detail... |
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... |
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... |
KMT2A rearrange | B-cell acute lymphoblastic leukemia | sensitive | Revumenib | Guideline | Actionable | Revuforj (revumenib) is included in guidelines for patients with relapsed or refractory B-cell acute lymphoblastic leukemia harboring a KMT2A rearrangement (NCCN.org). | detail... |
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... |
KMT2A rearrange | acute myeloid leukemia | sensitive | Revumenib | Guideline | Actionable | Revuforj (revumenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a KMT2A rearrangement (NCCN.org). | detail... |
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... |
MAP2K1 mutant | follicular lymphoma | not applicable | N/A | Guideline | Diagnostic | MAP2K1 mutations aid in the diagnosis of follicular lymphoma (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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
MLH1 mutant | colon cancer | not applicable | N/A | Guideline | Risk Factor | Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). | detail... |
MLH1 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... |
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... |
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... |
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... |
MLH1 negative | oral cavity cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic oral cavity 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... |
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... |
MLH1 negative | glottis cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic glottic larynx cancer (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 | 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... |
MLH1 negative | gastroesophageal junction adenocarcinoma | sensitive | Capecitabine + Oxaliplatin + Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab), in combination with Xeloda (capecitabine) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). | detail... |
MLH1 negative | 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 | 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... |
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... |
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... |
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... |
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... |
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... |
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... |
MLH1 negative | breast cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast 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 | 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 | 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... |
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... |
MLH1 negative | supraglottis cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic supraglottic larynx cancer (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... |
MLH1 negative | pancreatic adenocarcinoma | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first-line therapy for mismatch repair-deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) pancreatic adenocarcinoma patients with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), with metastatic disease with good, intermediate, or poor (ECOG 3) PS, and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease (NCCN.org). | detail... |
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... |
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... |
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... |
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... |
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... |
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... |
MLH1 negative | stomach cancer | sensitive | Dostarlimab-gxly | Guideline | Actionable | Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced or metastatic gastric cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). | detail... |
MLH1 negative | esophagus adenocarcinoma | sensitive | 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... |
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... |
MLH1 negative | vulva squamous cell carcinoma | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva squamous cell carcinoma (NCCN.org). | detail... |
MLH1 negative | oropharynx cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic oropharynx cancer (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... |
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... |
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... |
MLH1 negative | vulva adenocarcinoma | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva adenocarcinoma (NCCN.org). | detail... |
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... |
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 | 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 | 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... |
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 | 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 | 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... |
MLH1 negative | ethmoid sinus cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic ethmoid sinus cancer (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 | 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... |
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... |
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... |
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... |
MLH1 negative | salivary gland cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines for patients with recurrent, unresectable, or metastatic salivary gland tumors with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). | detail... |
MLH1 negative | gastroesophageal junction adenocarcinoma | sensitive | Fluorouracil + Nivolumab + Oxaliplatin | Guideline | Actionable | Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). | detail... |
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... |
MLH1 negative | breast cancer | sensitive | Dostarlimab-gxly | Guideline | Actionable | Jemperli (dostarlimab-gxly) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org). | detail... |
MLH1 negative | 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... |
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... |
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... |
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... |
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... |
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... |
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 | 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... |
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... |
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... |
MLH1 negative | maxillary sinus cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic maxillary sinus cancer (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... |
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... |
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... |
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... |
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... |
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... |
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... |
MLH1 negative | pancreatic adenocarcinoma | sensitive | Dostarlimab-gxly | Guideline | Actionable | Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) with good (ECOG 0-1), intermediate (ECOG 2) (category 2A), or poor (ECOG 3) (category 2B) performance status who have not received prior immunotherapy (NCCN.org). | detail... |
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... |
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... |
MLH1 negative | esophagus squamous cell carcinoma | sensitive | Ipilimumab + Nivolumab | Guideline | Actionable | Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophagus squamous cell carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). | detail... |
MLH1 negative | 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 | 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 | endometrial carcinoma | sensitive | Dostarlimab-gxly | Guideline | Actionable | Jemperli (dostarlimab-gxly) is included in guidelines as first-line or second-line therapy for patients with high microsatellite instability (MSI-H) or mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent endometrial carcinoma (NCCN.org). | detail... |
MLH1 negative | hypopharynx cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic hypopharynx cancer (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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
MSH6 mutant | small intestine adenocarcinoma | not applicable | N/A | Guideline | Risk Factor | Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). | detail... |
MSH6 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 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... |
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... |
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 | 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... |
MSH6 negative | breast cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer with 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... |
MSH6 negative | pancreatic adenocarcinoma | sensitive | Dostarlimab-gxly | Guideline | Actionable | Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) with good (ECOG 0-1), intermediate (ECOG 2) (category 2A), or poor (ECOG 3) (category 2B) performance status who have not received prior immunotherapy (NCCN.org). | detail... |
MSH6 negative | 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... |
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... |
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... |
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... |
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... |
MSH6 negative | vulva squamous cell carcinoma | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva squamous cell carcinoma (NCCN.org). | detail... |
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... |
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... |
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 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... |
MSH6 negative | hypopharynx cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic hypopharynx cancer (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... |
MSH6 negative | Adenocarcinoma of Unknown Primary | sensitive | Dostarlimab-gxly | Guideline | Actionable | Jemperli (dostarlimab-gxly) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). | detail... |
MSH6 negative | 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... |
MSH6 negative | oral cavity cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic oral cavity cancer (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... |
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 | hepatocellular carcinoma | sensitive | Dostarlimab-gxly | Guideline | Actionable | Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) hepatocellular carcinoma (NCCN.org). | detail... |
MSH6 negative | 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... |
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... |
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... |
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... |
MSH6 negative | vulva adenocarcinoma | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as a second-line or subsequent therapy for patients with advanced or recurrent/metastatic MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva adenocarcinoma (NCCN.org). | detail... |
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... |
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... |
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... |
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... |
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 | 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... |
MSH6 negative | maxillary sinus cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic maxillary sinus cancer (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... |
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... |
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... |
MSH6 negative | salivary gland cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines for patients with recurrent, unresectable, or metastatic salivary gland tumors with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). | detail... |
MSH6 negative | rectum cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as a preferred primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). | detail... |
MSH6 negative | colon cancer | sensitive | Nivolumab | Guideline | Actionable | Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). | detail... |
MSH6 negative | 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... |
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... |
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... |
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... |
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... |
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... |
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 | endometrial carcinoma | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent-line therapy for patients with recurrent or metastatic endometrial carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). | detail... |
MSH6 negative | ethmoid sinus cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic ethmoid sinus 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... |
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... |
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... |
MSH6 negative | supraglottis cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic supraglottic larynx cancer (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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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 | 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... |
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... |
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... |
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... |
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... |
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... |
MSH6 negative | glottis cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic glottic larynx 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... |
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... |
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... |
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... |
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... |
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... |
MSH6 negative | pancreatic adenocarcinoma | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first-line therapy for mismatch repair-deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) pancreatic adenocarcinoma patients with locally advanced disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), with metastatic disease with good, intermediate, or poor (ECOG 3) PS, and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease (NCCN.org). | detail... |
MSH6 negative | stomach cancer | sensitive | Fluorouracil + Nivolumab + Oxaliplatin | Guideline | Actionable | Opdivo (nivolumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org). | detail... |
MSH6 negative | breast cancer | sensitive | Dostarlimab-gxly | Guideline | Actionable | Jemperli (dostarlimab-gxly) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org). | detail... |
MSH6 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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
MSH6 negative | oropharynx cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as first- and subsequent-line therapy for patients with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) recurrent, unresectable, or metastatic oropharynx cancer (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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
NRAS mutant | Erdheim-Chester disease | sensitive | Trametinib | Guideline | Actionable | Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org). | detail... |
NRAS 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... |
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... |
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... |
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 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... |
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... |
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... |
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... |
PALB2 inact mut | breast cancer | sensitive | Olaparib | Guideline | Actionable | Lynparza (olaparib) is included in guidelines for patients with stage IV (M1) disease harboring germline PALB2 mutations (category 2A) (NCCN.org). | detail... |
PALB2 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 PALB2 mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org). | detail... |
PALB2 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 PALB2 (NCCN.org). | detail... |
PALB2 mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline PALB2 mutations are associated with increased risk of developing breast cancer (NCCN.org). | detail... |
PALB2 mutant | pancreatic cancer | not applicable | N/A | Guideline | Risk Factor | Germline PALB2 mutations are associated with increased pancreatic cancer susceptibility (NCCN.org). | detail... |
PALB2 mutant | pancreatic adenocarcinoma | sensitive | Fluorouracil + Irinotecan + Leucovorin + Oxaliplatin | Guideline | Actionable | FOLFIRINOX is included in guidelines as a preferred neoadjuvant therapy for pancreatic adenocarcinoma patients harboring PALB2 mutations with resectable/borderline resectable disease and as a preferred first-line therapy for patients with locally advanced or metastatic disease with good performance status (ECOG 0 -1) (NCCN.org). | detail... |
PALB2 mutant | uveal melanoma | not applicable | N/A | Guideline | Risk Factor | Germline PALB2 mutations are associated with familial uveal melanoma and increased risk of developing uveal melanoma (NCCN.org). | detail... |
PALB2 mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline PALB2 mutations are associated with increased risk of developing ovarian cancer (NCCN.org). | detail... |
PALB2 mutant | pancreatic adenocarcinoma | sensitive | Rucaparib | Guideline | Actionable | Rubraca (rucaparib) is included in guidelines as maintenance therapy following prior platinum-based therapy for patients with metastatic pancreatic adenocarcinoma harboring germline or somatic PALB2 mutations (NCCN.org). | detail... |
PALB2 mutant | prostate cancer | not applicable | N/A | Guideline | Risk Factor | Germline PALB2 mutations are associated with increased risk of developing prostate cancer (NCCN.org). | detail... |
PALB2 mutant | pancreatic adenocarcinoma | sensitive | Cisplatin + Gemcitabine | Guideline | Actionable | Platinol (cisplatin) in combination with Gemzar (gemcitabine) is included in guidelines as a preferred neoadjuvant therapy for pancreatic adenocarcinoma patients harboring PALB2 mutations with resectable/borderline resectable disease, as a preferred first-line therapy in patients with locally advanced or metastatic disease with good performance status (ECOG 0 -1), and as subsequent therapy for patients with locally advanced, metastatic, or recurrent diseases (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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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 | 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... |
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... |
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... |
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... |
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 | 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... |
RET fusion | hepatocellular carcinoma | sensitive | Selpercatinib | Guideline | Actionable | Retevmo (selpercatinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hepatocellular carcinoma harboring RET fusions (NCCN.org). | detail... |
RET fusion | 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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
RET fusion | breast cancer | sensitive | Selpercatinib | Guideline | Actionable | Retevmo (selpercatinib) is included in guidelines for patients with recurrent unresectable or stage IV (M1) breast cancer harboring RET fusions (NCCN.org). | detail... |
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... |
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... |
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... |
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... |
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... |
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 fusion | uterine corpus sarcoma | sensitive | Selpercatinib | Guideline | Actionable | Retevmo (selpercatinib) is included in guidelines as first-kine therapy for patients with advanced, recurrent/metastatic, or inoperable uterine sarcomas harboring RET fusions (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... |
RET fusion | intrahepatic cholangiocarcinoma | sensitive | Pralsetinib | Guideline | Actionable | Gavreto (pralsetinib) is included in guidelines as primary (category 2B) and subsequent-line therapy (category 2B) for patients with unresectable or metastatic biliary tract cancer harboring RET fusions, including intrahepatic cholangiocarcinoma (NCCN.org). | detail... |
RET 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... |
RET fusion | pancreatic adenocarcinoma | sensitive | Selpercatinib | Guideline | Actionable | Retevmo (selpercatinib) is included in guidelines as first-line therapy for pancreatic adenocarcinoma patients harboring RET fusions with locally advanced or metastatic disease with good (ECOG 0-1) or intermediate (ECOG 2) performance status (PS), and as subsequent therapy for patients with locally advanced, metastatic, or recurrent disease with good PS (NCCN.org). | detail... |
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... |
RET fusion | oncocytic carcinoma of the thyroid | sensitive | Pralsetinib | Guideline | Actionable | Gavreto (pralsetinib) is included in guidelines for patients with thyroid Hurthle cell carcinoma harboring RET fusions (NCCN.org). | detail... |
RET 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... |
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 | 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... |
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... |
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... |
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 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... |
RET mutant | medullary thyroid carcinoma | sensitive | Selpercatinib | Guideline | Actionable | Retevmo (selpercatinib) is included in guidelines for patients with medullary thyroid carcinoma harboring RET mutations (NCCN.org). | detail... |
RET 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... |
RET rearrange | lung non-small cell carcinoma | sensitive | Cabozantinib | Guideline | Actionable | Cometriq (cabozantinib) is in guidelines as subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (NCCN.org). | detail... |
RET rearrange | lung non-small cell carcinoma | sensitive | Pralsetinib | Guideline | Actionable | Gavreto (pralsetinib) is included in guidelines as a first-line therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (NCCN.org). | detail... |
RET rearrange | lung non-small cell carcinoma | sensitive | Selpercatinib | Guideline | Actionable | Retevmo (selpercatinib) is in guidelines as a first-line therapy (category 1) for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (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... |
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... |
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... |
RET V804M RET Y806C | medullary thyroid carcinoma | not applicable | N/A | Guideline | Risk Factor | Compound germline RET V804M and Y806C mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org). | detail... |
RET 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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
ROS1 rearrange ROS1 G2032R | lung non-small cell carcinoma | sensitive | Repotrectinib | Guideline | Actionable | Augtyro (repotrectinib) is included in guidelines as a subsequent therapy for patients with ROS1 rearranged non-small cell lung cancer harboring ROS1 G2032R (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... |
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... |
TP53 loss | chronic lymphocytic leukemia/small lymphocytic lymphoma | sensitive | Acalabrutinib + Venetoclax | Guideline | Actionable | Calquence (acalabrutinib) combined with Venclexta (venetoclax) is indicated in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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... |
TP53 loss | chronic lymphocytic leukemia/small lymphocytic lymphoma | sensitive | Lisocabtagene maraleucel | Guideline | Actionable | Breyanzi (lisocabtagene maraleucel) is indicated in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with TP53 loss after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (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... |
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... |
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... |
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... |
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... |
TP53 loss | chronic lymphocytic leukemia/small lymphocytic lymphoma | sensitive | Acalabrutinib | Guideline | Actionable | Calquence (acalabrutinib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org). | detail... |
TP53 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... |
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... |
TP53 loss | chronic lymphocytic leukemia/small lymphocytic lymphoma | sensitive | Acalabrutinib + Obinutuzumab + Venetoclax | Guideline | Actionable | The combination of Venclexta (venetoclax), Gazyva (obinutuzumab), and Calquence (acalabrutinib) is indicated in guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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 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... |
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 | chronic lymphocytic leukemia/small lymphocytic lymphoma | sensitive | Acalabrutinib + Venetoclax | Guideline | Actionable | Calquence (acalabrutinib) combined with Venclexta (venetoclax) is indicated in guidelines as first-line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org). | detail... |
TP53 mutant | mantle cell lymphoma | sensitive | Obinutuzumab + Venetoclax + Zanubrutinib | Guideline | Actionable | The combination of Brukinsa (zanubrutinib), Gazyva (obinutuzumab), and Venclexta (venetoclax) is included in guidelines as induction therapy for patients with mantle cell lymphoma harboring a TP53 mutation (NCCN.org). | detail... |
TP53 mutant | mantle cell lymphoma | sensitive | Acalabrutinib + Cyclophosphamide + Cytarabine + Dexamethasone + Doxorubicin + Prednisone + Rituximab + Vincristine Sulfate | Guideline | Actionable | The combination of Calquence (acalabrutinib) plus RCHOP alternating with Rituxan (rituximab), Adexone (dexamethasone), Cytosar-U (cytarabine) plus a platinum is included in guidelines as induction therapy for patients with mantle cell lymphoma harboring 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... |
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... |
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... |
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... |
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... |
TP53 mutant | chronic lymphocytic leukemia/small lymphocytic lymphoma | sensitive | Acalabrutinib + Obinutuzumab + Venetoclax | Guideline | Actionable | The combination of Venclexta (venetoclax), Gazyva (obinutuzumab), and Calquence (acalabrutinib) is indicated in guidelines as first line therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 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... |
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... |
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... |
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... |
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... |
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... |
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... |
TP53 mutant | mantle cell lymphoma | sensitive | Cyclophosphamide + Cytarabine + Dexamethasone + Doxorubicin + Ibrutinib + Prednisone + Rituximab + Vincristine Sulfate | Guideline | Actionable | The combination of Imbruvica (ibrutinib) plus RCHOP alternating with Rituxan (rituximab), Adexone (dexamethasone), Cytosar-U (cytarabine) plus a platinum is included in guidelines as induction therapy for patients with mantle cell lymphoma harboring a TP53 mutation (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... |
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... |
TP53 mutant | mantle cell lymphoma | sensitive | Cyclophosphamide + Cytarabine + Dexamethasone + Doxorubicin + Prednisone + Rituximab + Vincristine Sulfate + Zanubrutinib | Guideline | Actionable | The combination of Brukinsa (zanubrutinib) plus RCHOP alternating with Rituxan (rituximab), Adexone (dexamethasone), Cytosar-U (cytarabine) plus a platinum is included in guidelines as induction therapy for patients with mantle cell lymphoma harboring a TP53 mutation (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... |
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... |
TP53 mutant | essential thrombocythemia | not applicable | N/A | Guideline | Prognostic | The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org). | detail... |
TP53 mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline TP53 mutations result in Li-Fraumeni syndrome, which is associated with increased risk of developing breast cancer (NCCN.org). | detail... |
TP53 mutant | chronic lymphocytic leukemia/small lymphocytic lymphoma | sensitive | 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... |
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... |
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... |
TP53 mutant | chronic lymphocytic leukemia/small lymphocytic lymphoma | sensitive | Lisocabtagene maraleucel | Guideline | Actionable | Breyanzi (lisocabtagene maraleucel) is indicated in guidelines for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation after prior BTK inhibitor-based and BCL2 inhibitor-containing regimens (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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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... |
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