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Molecular Profile	Treatment Approach
ABL1 rearrange	ABL Inhibitor (pan)

Gene Name	Source	Synonyms	Protein Domains	Gene Description	Gene Role

Therapy Name	Drugs	Efficacy Evidence	Clinical Trials

Drug Name	Trade Name	Synonyms	Drug Classes	Drug Description

Gene	Variant	Impact	Protein Effect	Variant Description	Associated with drug Resistance

Molecular Profile	Indication/Tumor Type	Response Type	Therapy Name	Approval Status	Evidence Type	Efficacy Evidence	References
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...
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...
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...
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...
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...
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...
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...
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...
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...
BRAF V600E	thyroid gland Hurthle cell carcinoma	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...
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...
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...
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...
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...
RET M918X	thyroid gland medullary 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...
ABL1 rearrange	myeloid neoplasm	sensitive	Ponatinib	Guideline	Actionable	Iclusig (ponatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an ABL1 rearrangement (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Sorafenib	Guideline	Actionable	Nexavar (sorafenib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MLH1 negative	ovary epithelial cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 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...
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...
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	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...
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...
KIT D816V	systemic mastocytosis	not applicable	N/A	Guideline	Diagnostic	KIT D816V aids in the diagnosis of systemic mastocytosis (NCCN.org).	detail...
BRAF V600E	pleomorphic xanthoastrocytoma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as an adjuvant treatment for patients with pleomorphic xanthoastrocytoma harboring BRAF V600E (NCCN.org).	detail...
MLH1 negative	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	vulva cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva cancer (NCCN.org).	detail...
BRAF V600E	rectum cancer	sensitive	Encorafenib + Panitumumab	Guideline	Actionable	Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines as primary or subsequent therapy for patients with rectal cancer harboring BRAF V600E (NCCN.org).	detail...
MSH6 negative	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	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	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...
APC mutant	desmoid tumor	not applicable	N/A	Guideline	Diagnostic	APC mutations aid the diagnosis of desmoid tumor (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...
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...
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	oligodendroglioma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of oligodendrogliomas (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...
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...
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...
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...
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...
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...
ALK rearrange ALK G1202R	lung non-small cell carcinoma	sensitive	Lorlatinib	Guideline	Actionable	Lorbrena (lorlatinib) is included in guidelines as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer harboring ALK G1202R (NCCN.org).	detail...
FLT3 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...
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...
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...
CBL mutant	systemic mastocytosis	not applicable	N/A	Guideline	Prognostic	CBL mutations are associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org).	detail...
MLH1 negative	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	thyroid gland follicular 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...
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...
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...
IDH1 mutant	acute myeloid leukemia	sensitive	Azacitidine + Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) in combination with Vidaza (azacitidine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).	detail...
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...
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...
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...
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 V600E	lung non-small cell carcinoma	sensitive	Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) is included in guidelines as a first-line therapy for advanced or metastatic non-small cell lung cancer patients harboring BRAF V600E mutations who can not tolerate the combination of Mekinist (trametinib) and Tafinlar (dabrafenib) (NCCN.org).	detail...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Quizartinib	Guideline	Actionable	Vanflyta (quizartinib) in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine) is included in guidelines for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MSH6 negative	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...
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...
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 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...
IDH1 mutant	acute myeloid leukemia	sensitive	Azacitidine + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) in combination with Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).	detail...
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...
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...
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...
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...
IDH2 R140Q	myelodysplastic syndrome	not applicable	N/A	Guideline	Prognostic	IDH2 R140Q is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Lenalidomide + Rituximab	Guideline	Actionable	Revlimid (lenalidomide) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
ALK rearrange ALK L1196M	lung non-small cell carcinoma	sensitive	Lorlatinib	Guideline	Actionable	Lorbrena (lorlatinib) is included in guidelines as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer harboring ALK L1196M (NCCN.org).	detail...
MSH6 negative	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	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	breast cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines for patients with metastatic or unresectable breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org).	detail...
MSH6 mutant	endometrial carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org).	detail...
MSH6 negative	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...
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...
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...
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...
RET fusion	thyroid gland anaplastic 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 A883X	thyroid gland medullary 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...
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...
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...
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...
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 mutant	high grade glioma	not applicable	N/A	Guideline	Prognostic	IDH1 mutations are associated with a favorable prognosis in patients with glioma, and are associated with a survival benefit for patients treated with radiation or alkylator therapy (NCCN.org).	detail...
MLH1 negative	pancreatic adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Zanubrutinib	Guideline	Actionable	Brukinsa (zanubrutinib) is included in guidelines as first line therapy and second line therapy and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
BRAF V600E	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...
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...
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...
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...
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 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...
IDH2 mutant	anaplastic astrocytoma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of grade III astrocytomas (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...
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...
RET fusion	thyroid gland follicular carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines for patients with follicular thyroid carcinoma harboring RET fusions (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	osteosarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic osteosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 R132H	high grade glioma	not applicable	N/A	Guideline	Diagnostic	IDH1 R132H is diagnostic and aids in the diagnosis of gliomas (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...
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...
RET rearrange	lung non-small cell carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is in guidelines as a first-line and subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (NCCN.org).	detail...
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...
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...
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...
MSH6 negative	thyroid gland medullary 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	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...
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...
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...
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...
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...
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...
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...
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...
FLT3 rearrange	myeloid neoplasm	sensitive	Sunitinib	Guideline	Actionable	Sutent (sunitinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).	detail...
BRAF V600E	thyroid gland papillary 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...
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...
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 PALB2 mutations (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...
FLT3 exon22	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
RET fusion	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...
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...
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...
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...
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...
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...
FGFR3 mutant	transitional cell carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr3 alterations after progression on platinum-based regimens (NCCN.org).	detail...
RET V804M RET E805K	thyroid gland medullary 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...
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...
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...
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...
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	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...
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...
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...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Rituximab + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) combined with Rituxan (rituximab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org).	detail...
MSH6 negative	thyroid gland papillary 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	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...
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...
ROS1 fusion	skin melanoma	sensitive	Crizotinib	Guideline	Actionable	Xalkori (crizotinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with ROS1 fusions (NCCN.org).	detail...
MSH6 negative	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...
BRAF V600E	biliary tract cancer	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) in combination with Mekinist (trametinib) is included in guidelines as subsequent-line therapy for patients with biliary tract cancer harboring BRAF V600E (NCCN.org).	detail...
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...
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...
MSH6 negative	vulva cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a second-line therapy for patients with MSI high or dMMR (often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) vulva cancer (NCCN.org).	detail...
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	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...
IDH2 mutant	glioblastoma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of secondary grade IV glioblastomas (NCCN.org).	detail...
RET fusion	thyroid gland papillary 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...
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...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
BRAF V600E	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...
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...
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	cervical cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred second-line or subsequent therapy for patients with cervical cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	esophagus adenocarcinoma	sensitive	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...
RET rearrange	lung non-small cell carcinoma	sensitive	Cabozantinib	Guideline	Actionable	Cometriq (cabozantinib) is in guidelines as a first-line and subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (NCCN.org).	detail...
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...
MSH6 negative	ampulla of Vater adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET 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...
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...
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...
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...
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...
RET mutant	thyroid gland medullary carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines (category 2B) for patients with medullary thyroid carcinoma harboring RET mutations (NCCN.org).	detail...
BRAF 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...
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...
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...
RET fusion	colon cancer	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with metastatic colon cancer harboring RET fusions (NCCN.org).	detail...
MSH6 negative	pancreatic adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have not received prior immunotherapy (NCCN.org).	detail...
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...
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...
RET V804M RET S904C	thyroid gland medullary 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...
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...
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...
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...
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...
RET C630X	thyroid gland medullary 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...
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...
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...
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...
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...
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 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...
BRAF V600E	thyroid gland anaplastic 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...
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...
PALB2 mutant	pancreatic cancer	not applicable	N/A	Guideline	Risk Factor	Germline PALB2 mutations are associated with increased pancreatic cancer susceptibility (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...
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...
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...
IDH2 R172X	myelodysplastic syndrome	not applicable	N/A	Guideline	Prognostic	IDH2 R172X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).	detail...
BRAF V600E	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...
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...
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...
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...
BRAF V600X	skin melanoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as neoadjuvant or adjuvant therapy for stage III disease and as second-line or subsequent therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 mutation (NCCN.org).	detail...
MSH6 negative	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...
BRAF V600E	thyroid gland Hurthle cell carcinoma	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...
RET fusion	thyroid gland medullary 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...
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...
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...
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...
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...
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...
MLH1 negative	ampulla of Vater adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF V600E	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
MSH6 negative	ovary epithelial cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced epithelial ovarian, fallopian tube, or primary peritoneal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 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...
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...
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...
RET fusion	Erdheim-Chester disease	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring RET fusions (NCCN.org).	detail...
BRAF 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...
MLH1 negative	thyroid gland Hurthle cell carcinoma	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...
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...
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...
BRAF V600E	hairy cell leukemia	not applicable	N/A	Guideline	Diagnostic	BRAF V600E is diagnostic and aids in distinguishing classic hairy cell leukemia (cHCL) from variant hairy cell leukemia (HCLv) and other B-cell lymphomas and leukemias (PMID: 29118233, NCCN.org).	detail... 29118233
MLH1 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...
IDH2 mutant	polycythemia vera	not applicable	N/A	Guideline	Prognostic	IDH2 mutations are associated with inferior overall survival and leukemia-free survival in patients with polycythemia vera (NCCN.org).	detail...
FLT3 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 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...
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...
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...
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 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	sensitive	Sorafenib	Guideline	Actionable	Nexavar (sorafenib) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
KIT 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...
RET rearrange	lung non-small cell carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as a first-line and subsequent therapy for patients with advanced or metastatic non-small cell lung cancer harboring RET rearrangements (NCCN.org).	detail...
RET fusion	thyroid gland papillary carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with papillary thyroid carcinoma harboring RET fusions (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...
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 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...
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...
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...
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...
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...
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...
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...
BRAF V600E	thyroid gland papillary 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...
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...
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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Gefitinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).	detail...
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...
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...
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...
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...
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...
RET fusion	pancreatic adenocarcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma harboring RET fusions (NCCN.org).	detail...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
RET fusion	Adenocarcinoma of Unknown Primary	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with adenocarcinoma of unknown primary harboring RET fusions (NCCN.org).	detail...
MLH1 negative	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...
FGFR1 rearrange	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	FGFR1 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
MSH6 negative	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...
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...
IDH2 mutant	acute myeloid leukemia	sensitive	Decitabine	Guideline	Actionable	Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).	detail...
FLT3 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
RET Y791X	thyroid gland medullary 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...
ABL1 rearrange	myeloid neoplasm	sensitive	Asciminib	Guideline	Actionable	Scemblix (asciminib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an ABL1 rearrangement (NCCN.org).	detail...
MSH6 negative	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...
JAK3 mutant	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK3 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
BRAF 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...
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 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...
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, second-line, or third-line therapy (category 2B) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
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...
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...
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...
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...
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...
FLT3 rearrange	myeloid neoplasm	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a FLT3 rearrangement (NCCN.org).	detail...
MSH6 negative	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	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...
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...
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...
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...
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...
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...
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...
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...
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...
RET V804X	thyroid gland medullary 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...
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...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Duvelisib	Guideline	Actionable	Copiktra (duvelisib) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
MSH6 negative	colon cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
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...
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...
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...
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...
IDH2 mutant	oligodendroglioma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org).	detail...
CTNNB1 mutant	desmoid tumor	not applicable	N/A	Guideline	Diagnostic	CTNNB1 mutations aid the diagnosis of desmoid tumor (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	thyroid gland follicular carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with follicular thyroid carcinoma harboring RET fusions (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...
BRAF V600E	thyroid gland follicular 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	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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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...
BRAF V600E	thyroid gland papillary carcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	The combination of Tafinlar (dabrafenib) and Mekinist (trametinib) is included in guidelines for patients with papillary thyroid carcinoma harboring BRAF V600E who have progressed on therapy and have no further treatment options (NCCN.org).	detail...
FLT3 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...
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...
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...
PALB2 mutant	pancreatic adenocarcinoma	sensitive	Fluorouracil + Irinotecan + Leucovorin + Oxaliplatin	Guideline	Actionable	FOLFIRINOX is included in guidelines as a preferred first-line therapy for patients with locally advanced or metastatic pancreatic adenocarcinoma harboring PALB2 mutations with good performance status (ECOG 0 -1) (NCCN.org).	detail...
ROS1 rearrange	lung non-small cell carcinoma	sensitive	Ceritinib	Guideline	Actionable	Zykadia (ceritinib) is included in guidelines as first-line therapy for ROS1-rearranged non-small cell lung cancer, but is not indicated after patients become resistant to Xalkori (crizotinib) (NCCN.org).	detail...
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...
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...
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...
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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Afatinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).	detail...
BRAF 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 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...
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
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 mutant	myelofibrosis	not applicable	N/A	Guideline	Diagnostic	JAK2 mutations aid in the diagnosis of primary myelofibrosis (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...
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	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...
BRAF V600E	pancreatic adenocarcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines as first-line therapy for patients with locally advanced (category 2A) or metastatic (category 2B) pancreatic adenocarcinoma harboring BRAF V600E, and as subsequent-line therapy for patients with locally advanced, recurrent, or metastatic disease (category 2A) (NCCN.org).	detail...
BRAF V600E	thyroid gland follicular 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...
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...
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...
VHL mutant	islet cell tumor	sensitive	Belzutifan	Guideline	Actionable	Welireg (belzutifan) is included in guidelines for patients with well-differentiated Grade 1/2 progressive pancreatic neuroendocrine tumors harboring germline VHL mutations (NCCN.org).	detail...
MLH1 negative	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	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...
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...
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...
RET C634X	thyroid gland medullary 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 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...
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...
MLH1 negative	stomach cancer	sensitive	Fluorouracil + Oxaliplatin + Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab), in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) is included in guidelines as first-line therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 mutant	medulloblastoma	not applicable	N/A	Guideline	Prognostic	TP53 mutations are associated with aggressive disease in patients with SHH-activated medulloblastoma (NCCN.org).	detail...
ALK rearrange	lung non-small cell carcinoma	no benefit	Osimertinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Alemtuzumab + Rituximab	Guideline	Actionable	Campath (alemtuzumab) combined with Rituxan (rituximab) is indicated in guidelines as therapy for patients with relapsed or refractory chronic lymphocytic leukemia/small lymphocytic lymphoma with a TP53 mutation who received prior treatment with a BTK inhibitor or Venclexta (venetoclax)-based therapy (NCCN.org).	detail...
NRAS exon4	rectum cancer	resistant	Cetuximab	Guideline	Actionable	Erbitux (cetuximab) is not indicated for use in rectum cancer patients with NRAS exon 4 mutations (NCCN.org).	detail...
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...
ALK rearrange	anaplastic large cell lymphoma	not applicable	N/A	Guideline	Diagnostic	ALK rearrangement aids in the diagnosis of anaplastic large cell lymphoma (NCCN.org).	detail...
FLT3 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...
MLH1 negative	thyroid gland papillary 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
RET C618X	thyroid gland medullary 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...
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...
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...
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, second-line, or third-line therapy (category 2B) for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
RET C611X	thyroid gland medullary 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...
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 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...
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...
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...
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...
ABL1 rearrange	myeloid neoplasm	sensitive	Nilotinib	Guideline	Actionable	Tasigna (nilotinib) is included in guidelines as a preferred regimen for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (NCCN.org).	detail...
TP53 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...
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...
ALK rearrange	lung non-small cell carcinoma	no benefit	Erlotinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).	detail...
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	Panitumumab	Guideline	Actionable	Vectibix (panitumumab) is not indicated for use in rectum cancer patients with NRAS exon 3 mutations (NCCN.org).	detail...
FLT3 exon 15 ins	acute myeloid leukemia	sensitive	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...
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...
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...
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...
BRAF fusion	pilocytic astrocytoma	not applicable	N/A	Guideline	Diagnostic	BRAF fusions aid in the diagnosis of pilocytic astrocytoma (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...
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...
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...
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...
BRAF V600E	glioblastoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines for patients with recurrent glioblastoma harboring BRAF V600E (NCCN.org).	detail...
FLT3 exon16	acute myeloid leukemia	sensitive	Midostaurin	Guideline	Actionable	Rydapt (midostaurin) is included in guidelines as maintenance therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
BRAF V600E	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...
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...
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	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy and subsequent-line therapy for patients with unresectable or metastatic biliary tract cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), including intrahepatic cholangiocarcinoma (NCCN.org).	detail...
IDH1 mutant	acute myeloid leukemia	sensitive	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...
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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Osimertinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).	detail...
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 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...
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...
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...
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...
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...
IDH2 mutant	essential thrombocythemia	not applicable	N/A	Guideline	Prognostic	The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org).	detail...
MLH1 negative	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	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...
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...
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...
BRAF wild-type	rectum cancer	predicted - sensitive	Cetuximab	Guideline	Actionable	Erbitux (cetuximab), alone and in combination with chemotherapy, is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).	detail...
BRAF V600E	salivary gland cancer	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for patients with recurrent, unresectable, or metastatic salivary gland tumors harboring BRAF V600E (NCCN.org).	detail...
MSH6 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...
CDKN2A mutant	skin melanoma	not applicable	N/A	Guideline	Risk Factor	Germline CDKN2A mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org).	detail...
NRAS 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...
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...
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...
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...
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...
JAK2 exon12	polycythemia vera	not applicable	N/A	Guideline	Diagnostic	JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (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	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	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	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...
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...
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...
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...
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...
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 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...
RET E768X	thyroid gland medullary carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline RET E768X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org).	detail...
FLT3 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 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 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...
RET fusion	thyroid gland medullary carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with medullary thyroid carcinoma harboring RET fusions (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...
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...
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...
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...
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...
ALK rearrange	lung non-small cell carcinoma	no benefit	Afatinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).	detail...
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...
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	gastroesophageal junction adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 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...
PIK3CA mutant	Erdheim-Chester disease	sensitive	Trametinib	Guideline	Actionable	Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org).	detail...
MLH1 negative	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...
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...
FGFR3 mutant	bladder urothelial carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr3 alterations after progression on platinum-based regimens (NCCN.org).	detail...
MLH1 negative	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...
ALK rearrange	lung non-small cell carcinoma	no benefit	Gefitinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).	detail...
MSH6 negative	stomach cancer	sensitive	Durvalumab + Tremelimumab	Guideline	Actionable	Imfinzi (durvalumab), in combination with Imjudo (tremelimumab, is included in guidelines as neoadjuvant therapy for patients with gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	thyroid gland medullary 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	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	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...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in the guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MLH1 negative	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	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...
RET L790X	thyroid gland medullary 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...
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...
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...
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...
IDH1 mutant	myelodysplastic syndrome	sensitive	Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) is included in guidelines for patients with myelodysplastic syndrome harboring an IDH1 mutation who progressed or failed to respond to prior treatment (NCCN.org).	detail...
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...
MLH1 negative	rectum cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a preferred primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	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...
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...
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...
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...
FLT3 exon23	acute myeloid leukemia	sensitive	Cytarabine + Midostaurin	Guideline	Actionable	Rydapt (midostaurin) in combination with Cytosar-U (cytarabine) is included in guidelines as consolidation therapy for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
BRAF 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...
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...
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...
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...
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...
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...
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...
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...
ALK fusion	Erdheim-Chester disease	sensitive	Lorlatinib	Guideline	Actionable	Lorbrena (lorlatinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring ALK fusions (NCCN.org).	detail...
MLH1 negative	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...
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...
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...
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	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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
IDH1 mutant	glioblastoma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of secondary grade IV glioblastomas (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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Erlotinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).	detail...
IDH2 mutant	high grade glioma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of gliomas (NCCN.org).	detail...
RET C609X	thyroid gland medullary 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...
MSH6 mutant	small intestine adenocarcinoma	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).	detail...
MSH6 negative	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...
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...
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...
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...
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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Alectinib	Guideline	Actionable	Alecensa (alectinib) is not indicated for use in ROS1 rearranged non-small cell lung cancer patients whose disease became resistant to Xalkori (crizotinib) (NCCN.org).	detail...
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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Brigatinib	Guideline	Actionable	Alunbrig (brigatinib) is not indicated for use in ROS1 rearranged non-small cell lung cancer patients whose disease became resistant to Xalkori (crizotinib) (NCCN.org).	detail...
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...
MLH1 negative	sarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for soft tissue sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), regardless of sarcoma sub-type (NCCN.org).	detail...
JAK2 mutant	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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
MSH6 negative	stomach cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic gastric cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
BRAF 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...
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...
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...
RET mutant	thyroid gland medullary carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with medullary thyroid carcinoma harboring RET mutations (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...
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...
RET fusion	thyroid gland anaplastic carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with anaplastic thyroid carcinoma harboring RET fusions (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 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...
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...
ALK rearrange	lung non-small cell carcinoma	sensitive	Crizotinib	Guideline	Actionable	Xalkori (crizotinib) is included in guidelines as first-line therapy for ALK rearranged non-small cell lung cancer (NCCN.org).	detail...
MLH1 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...
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...
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...
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...
FLT3 exon 14 ins	acute myeloid leukemia	predicted - 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...
RET fusion	thyroid gland Hurthle cell carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines for patients with thyroid Hurthle cell carcinoma harboring RET fusions (NCCN.org).	detail...
ALK rearrange	inflammatory myofibroblastic tumor	sensitive	Lorlatinib	Guideline	Actionable	Lorbrena (lorlatinib) is included in guidelines as first-line therapy for patients with advanced, recurrent, metastatic, or inoperable inflammatory myofibroblastic tumor harboring ALK translocations (NCCN.org).	detail...
MSH6 negative	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	breast cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines for patients with metastatic or unresectable breast cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have progressed on or following prior treatment (NCCN.org).	detail...
BRAF V600E	thyroid gland follicular 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 fusion	pilocytic astrocytoma	not applicable	N/A	Guideline	Prognostic	BRAF fusions are associated with indolent disease in patients with pilocytic astrocytoma (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...
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...
MSH6 negative	esophagus adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab), in combination with Yervoy (ipilimumab), is included in guidelines as first-line, second-line, or subsequent therapy for patients with unresectable locally advanced, recurrent, or metastatic esophageal adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH1 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...
TP53 mutant	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	TP53 mutations are associated with poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
MLH1 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...
ALK rearrange	lung non-small cell carcinoma	no benefit	Pembrolizumab	Guideline	Actionable	Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org).	detail...
BRAF 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...
MSH6 negative	thyroid gland Hurthle cell carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with Hurthle cell thyroid carcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) after progression on prior treatment (NCCN.org).	detail...
TP53 mutant	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...
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...
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...
RET V804M RET Y806C	thyroid gland medullary 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...
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 + 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	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...
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 mutant	rectum cancer	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org).	detail...
BRAF V600E	colon cancer	sensitive	Encorafenib + Panitumumab	Guideline	Actionable	Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines as primary or subsequent therapy for patients with colon cancer harboring BRAF V600E (NCCN.org).	detail...
MLH1 mutant	small intestine adenocarcinoma	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).	detail...
MSH6 negative	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	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	thyroid gland follicular 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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 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 rearrange	lung non-small cell carcinoma	sensitive	Ceritinib	Guideline	Actionable	Zykadia (ceritinib) is included in guidelines as first-line and as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (NCCN.org).	detail...
IDH1 mutant	myelofibrosis	not applicable	N/A	Guideline	Prognostic	IDH1 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org).	detail...
RET fusion	thyroid gland Hurthle cell carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is included in guidelines for patients with thyroid Hurthle cell carcinoma harboring RET fusions (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...
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	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...
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...
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...
RET S891X	thyroid gland medullary 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...
MSH6 negative	pancreatic adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
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...
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	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	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...
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...
JAK2 mutant	essential thrombocythemia	not applicable	N/A	Guideline	Diagnostic	JAK2 mutations aid in the diagnosis of essential thrombocythemia (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...
JAK2 V617F	polycythemia vera	not applicable	N/A	Guideline	Diagnostic	JAK2 V617F aids in the diagnosis of polycythemia vera (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...
MLH1 negative	pancreatic adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with locally advanced, metastatic, or recurrent pancreatic adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) who have not received prior immunotherapy (NCCN.org).	detail...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
MSH6 negative	chordoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic chordoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	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...
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...
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...
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...
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...
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 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...
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...
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 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...
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...
IDH1 mutant	anaplastic astrocytoma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of grade III astrocytomas (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...
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...
RET C620X	thyroid gland medullary 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...
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...
CTNNB1 mutant	medulloblastoma	not applicable	N/A	Guideline	Prognostic	WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org).	detail...
MLH1 negative	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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
PALB2 mutant	pancreatic adenocarcinoma	sensitive	Cisplatin + Gemcitabine	Guideline	Actionable	Platinol (cisplatin), in combination with Gemzar (gemcitabine), is included in guidelines as a preferred first-line therapy for patients with locally advanced or metastatic pancreatic adenocarcinoma harboring PALB2 mutations with good performance status (ECOG 0 -1), and as a subsequent therapy for patients with locally advanced, metastatic, or recurrent diseases (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...

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