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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	gallbladder cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for gallbladder cancer 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	esophageal cancer	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 cancer that are unresectable, locally advanced, recurrent, or metastatic (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...
IDH2 mutant	high grade glioma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of gliomas (NCCN.org).	detail...
ROS1 rearrange	lung non-small cell carcinoma	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...
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...
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...
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...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Zanubrutinib	Guideline	Actionable	Brukinsa (zanubrutinib) is included in guidelines as first line therapy and second line therapy and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
BRAF V600E	rectum cancer	sensitive	Encorafenib + Panitumumab	Guideline	Actionable	Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines as primary or subsequent therapy for patients with rectal cancer harboring BRAF V600E (NCCN.org).	detail...
BRAF V600E	lung non-small cell carcinoma	sensitive	Dabrafenib	Guideline	Actionable	Tafinlar (dabrafenib) is in guidelines 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...
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...
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...
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...
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...
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...
CTNNB1 mutant	desmoid tumor	not applicable	N/A	Guideline	Diagnostic	CTNNB1 mutations aid the diagnosis of desmoid tumor (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...
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...
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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Brigatinib	Guideline	Actionable	Alunbrig (brigatinib) is not indicated for use in ROS1 rearranged non-small cell lung cancer patients whose disease became resistant to Xalkori (crizotinib) (NCCN.org).	detail...
BRAF 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	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 negative	neuroendocrine tumor	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as an option for patients with relapsed neuroendocrine tumors with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), and no alternative options (NCCN.org).	detail...
ABL1 rearrange	myeloid neoplasm	sensitive	Dasatinib	Guideline	Actionable	Sprycel (dasatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (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...
MLH1 negative	endometrial carcinoma	sensitive	Avelumab	Guideline	Actionable	Bavencio (avelumab) is included in guidelines as a 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, metastatic, or high-risk endometrial carcinoma (NCCN.org).	detail...
MSH6 negative	endometrial carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as a 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, metastatic, or high-risk endometrial carcinoma (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...
JAK2 V617F	polycythemia vera	not applicable	N/A	Guideline	Diagnostic	JAK2 V617F aids in the diagnosis of polycythemia vera (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...
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...
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	medulloblastoma	not applicable	N/A	Guideline	Prognostic	TP53 mutations are associated with aggressive disease in patients with SHH-activated medulloblastoma (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...
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...
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...
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...
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 activating mutation, such as BRAF V600E, as adjuvant therapy for stage III disease and as systemic therapy for patients with unresectable or metastatic disease (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...
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...
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...
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...
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...
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...
ALK rearrange	lung non-small cell carcinoma	no benefit	Ipilimumab + Nivolumab	Guideline	Actionable	Immune checkpoint inhibitors including Keytruda (pembrolizumab), Tecentriq (atezolizumab), and the combination of Opdivo (nivolumab) and Yervoy (ipilimumab) are not indicated for use as initial systemic therapy in non-small cell lung cancer patients harboring oncogenes, including ALK rearrangement (NCCN.org).	detail...
RET fusion	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...
ROS1 rearrange	lung non-small cell carcinoma	no benefit	Erlotinib	Guideline	Actionable	EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org).	detail...
BRAF V600X	skin melanoma	sensitive	Binimetinib + Encorafenib	Guideline	Actionable	Mektovi (binimetinib) and Braftovi (encorafenib) combination therapy is included in guidelines as a second-line or subsequent therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 activating mutation (NCCN.org).	detail...
TP53 mutant	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...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Sorafenib	Guideline	Actionable	Nexavar (sorafenib) is included in guidelines as maintenancy therapy for patients with acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (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...
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...
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	gallbladder cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy for patients with unresectable or metastatic gallbladder 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), or as subsequent-line therapy (NCCN.org).	detail...
ALK rearrange	inflammatory myofibroblastic tumor	sensitive	Crizotinib	Guideline	Actionable	Xalkori (crizotinib) is included in guidelines for inflammatory myofibroblastic tumor patients with ALK translocations (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...
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...
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...
IDH2 wild-type	high grade glioma	not applicable	N/A	Guideline	Risk Factor	IDH2 wild-type is associated with increased risk of aggressive disease in patients with grade II or III infiltrative gliomas (NCCN.org).	detail...
JAK2 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...
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...
PALB2 mutant	pancreatic adenocarcinoma	sensitive	Fluorouracil + Irinotecan + Leucovorin + Oxaliplatin	Guideline	Actionable	FOLFIRINOX is included in guidelines as a first-line therapy for advanced or metastatic pancreatic adenocarcinoma patients with PALB2 mutations (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...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Venetoclax	Guideline	Actionable	Venclexta (venetoclax) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
NRAS 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...
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...
IDH1 mutant	myelofibrosis	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org).	detail...
TP53 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	osteosarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic osteosarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	vulva squamous cell carcinoma	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 squamous cell carcinoma (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...
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...
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...
RET rearrange	lung non-small cell carcinoma	sensitive	Cabozantinib	Guideline	Actionable	Cometriq (cabozantinib) is in guidelines for non-small cell lung cancer patients with RET rearrangements (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...
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 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...
BRAF V600E	pilocytic astrocytoma	sensitive	Selumetinib	Guideline	Actionable	Koselugo (selumetinib) is included in guidelines for patients with recurrent or progressive pilocytic astrocytoma harboring BRAF V600E (NCCN.org).	detail...
BRAF V600X	skin melanoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Tafinlar (dabrafenib) and Mekinist (trametinib) 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...
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...
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	Cobimetinib + Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as a second-line or subsequent therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 activating mutation (NCCN.org).	detail...
BRAF 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	gastroesophageal junction adenocarcinoma	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) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
FGFR2 mutant	bladder urothelial carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr2 alterations after progression on platinum-based regimens (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...
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 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...
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...
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...
JAK3 mutant	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK3 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
BRAF V600E	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...
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 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	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...
IDH2 mutant	oligodendroglioma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org).	detail...
BRAF V600K	skin melanoma	sensitive	Dabrafenib	Guideline	Actionable	Tafinlar (dabrafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600K, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).	detail...
BRAF V600E	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...
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	intrahepatic cholangiocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for intrahepatic cholangiocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (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...
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...
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...
FGFR2 fusion	cholangiocarcinoma	sensitive	Infigratinib	Guideline	Actionable	Truseltiq (infigratinib) is included in guidelines as a subsequent-line therapy for patients with cholangiocarcinoma harboring an FGFR2 fusion or rearrangement (NCCN.org).	detail...
MSH6 negative	Squamous Cell Carcinoma of Unknown Primary	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for patients with squamous cell carcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
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...
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...
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...
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...
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...
KMT2A rearrange	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	KMT2A rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
MSH6 negative	stomach cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as 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...
FLT3 exon16	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
FLT3 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...
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...
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...
MSH6 negative	endometrial carcinoma	sensitive	Avelumab	Guideline	Actionable	Bavencio (avelumab) is included in guidelines as a 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, metastatic, or high-risk endometrial carcinoma (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...
JAK2 mutant	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
RET 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...
ATRX mutant	high grade glioma	not applicable	N/A	Guideline	Diagnostic	ATRX mutations aid in the diagnosis of gliomas (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...
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...
IDH2 mutant	glioblastoma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of secondary grade IV glioblastomas (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...
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...
MSH6 negative	ovarian cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced ovarian cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET fusion	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...
BRAF V600E	pleomorphic xanthoastrocytoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Mekinist (trametinib) and Tafinlar (dabrafenib) combination therapy is included in guidelines as an adjuvant treatment for patients with pleomorphic xanthoastrocytoma harboring BRAF V600E (NCCN.org).	detail...
MLH1 negative	gastroesophageal junction adenocarcinoma	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 gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET V804M RET Y806C	thyroid gland medullary carcinoma	not applicable	N/A	Guideline	Risk Factor	Compound germline RET V840M 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...
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...
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...
BRAF V600E	colon cancer	resistant	Cetuximab	Guideline	Actionable	Erbitux (cetuximab), as a monotherapy, is not indicated for use in colon cancer patients with BRAF V600E (NCCN.org).	detail...
BRAF V600E	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...
RET fusion	extrahepatic bile duct carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as primary (category 2B) or subsequent-line therapy (category 2B) for patients with unresectable or metastatic extrahepatic cholangiocarcinoma harboring RET fusions (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...
MLH1 negative	gallbladder cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for gallbladder cancer patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (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...
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...
RET rearrange	lung non-small cell carcinoma	sensitive	Selpercatinib	Guideline	Actionable	Retevmo (selpercatinib) is in guidelines for non-small cell lung cancer patients with RET rearrangements (NCCN.org).	detail...
MSH6 negative	ampulla of Vater adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) and (ipilimumab) combination therapy is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	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...
MSH6 negative	endometrial carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a preferred second-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...
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...
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...
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...
IDH1 mutant	oligodendroglioma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of oligodendrogliomas (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...
JAK2 mutant	myelofibrosis	not applicable	N/A	Guideline	Diagnostic	JAK2 mutations aid in the diagnosis of primary myelofibrosis (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...
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...
APC mutant	desmoid tumor	not applicable	N/A	Guideline	Diagnostic	APC mutations aid the diagnosis of desmoid tumor (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...
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...
MSH6 negative	colon cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	stomach cancer	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) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (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...
IDH2 mutant	myelofibrosis	not applicable	N/A	Guideline	Prognostic	IDH2 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org).	detail...
BRAF 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...
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...
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...
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 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...
FGFR3 mutant	transitional cell carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr3 alterations after progression on platinum-based regimens (NCCN.org).	detail...
MLH1 negative	colon cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 rearrange	B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	FLT3 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
FLT3 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...
ALK rearrange	inflammatory myofibroblastic tumor	sensitive	Lorlatinib	Guideline	Actionable	Lorbrena (lorlatinib) is included in guidelines for inflammatory myofibroblastic tumor patients with ALK translocations (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...
PALB2 mutant	pancreatic cancer	not applicable	N/A	Guideline	Risk Factor	Germline PALB2 mutations are associated with increased pancreatic cancer susceptibility (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...
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	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 Guidelines).	detail...
MSH6 negative	gastroesophageal junction adenocarcinoma	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 gastroesophageal junction adenocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET fusion	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...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Ofatumumab	Guideline	Actionable	Arzerra (ofatumumab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 mutation (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...
MSH6 negative	Ewing sarcoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for metastatic Ewing sarcoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	Adenocarcinoma of Unknown Primary	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines for patients with adenocarcinoma of unknown primary with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	rectum cancer	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
TP53 mutant	chronic lymphocytic leukemia/small lymphocytic lymphoma	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...
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...
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...
NRAS exon3	rectum cancer	resistant	Cetuximab	Guideline	Actionable	Erbitux (cetuximab) is not indicated for use in rectum cancer patients with NRAS exon 3 mutations (NCCN.org).	detail...
MSH6 negative	colon cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET 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...
BRAF wild-type	rectum cancer	predicted - sensitive	Panitumumab	Guideline	Actionable	Vectibix (panitumumab) is included in guidelines for patients with advanced or metastatic rectal cancer that is BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org).	detail...
BRAF 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...
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...
MLH1 negative	extrahepatic bile duct carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for extrahepatic cholangiocarcinoma 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 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...
MSH6 negative	intrahepatic cholangiocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for intrahepatic cholangiocarcinoma 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	gallbladder cancer	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as primary (category 2B) or subsequent-line therapy (category 2B) for patients with unresectable or metastatic gallbladder cancer harboring RET fusions (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...
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...
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...
MLH1 negative	stomach cancer	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) stomach cancer that are unresectable, locally advanced, recurrent, or metastatic (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...
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...
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...
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...
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
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...
RET V804M RET E805K	thyroid gland medullary carcinoma	not applicable	N/A	Guideline	Risk Factor	Compound germline RET V840M 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...
MSH6 negative	endometrial carcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as a 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, metastatic, or high-risk endometrial carcinoma (NCCN.org).	detail...
CDKN2A mutant	pancreatic cancer	not applicable	N/A	Guideline	Risk Factor	Germline mutations in CDKN2A results in familial malignant melanoma syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org).	detail...
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...
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...
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...
NRAS exon4	colon cancer	resistant	Panitumumab	Guideline	Actionable	Vectibix (panitumumab) is not indicated for use in colon cancer patients with NRAS exon 4 mutations (NCCN.org).	detail...
TP53 mutant	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...
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...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	Ofatumumab	Guideline	Actionable	Arzerra (ofatumumab) is indicated in the guidelines as second line and subsequent therapy for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org).	detail...
MLH1 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...
MSH6 negative	extrahepatic bile duct carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for extrahepatic cholangiocarcinoma 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	gallbladder cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy for patients with unresectable or metastatic gallbladder 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), or as subsequent-line therapy (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...
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...
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...
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...
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...
MLH1 negative	endometrial carcinoma	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as a 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, metastatic, or high-risk endometrial carcinoma (NCCN.org).	detail...
IDH2 mutant	polycythemia vera	not applicable	N/A	Guideline	Prognostic	IDH2 mutations are associated with inferior overall survival and leukemia-free survival in patients with polycythemia vera (NCCN.org).	detail...
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...
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 ALK G1202R	lung non-small cell carcinoma	sensitive	Lorlatinib	Guideline	Actionable	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...
MLH1 negative	endometrial carcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as a 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, metastatic, or high-risk endometrial carcinoma (NCCN.org).	detail...
BRAF V600E	lung non-small cell carcinoma	sensitive	Vemurafenib	Guideline	Actionable	Zelboraf (vemurafenib) is in guidelines for metastatic non-small cell lung cancer patients with BRAF V600E mutations who can not tolerate the combination of Mekinist (trametinib) and Tafinlar (dabrafenib) (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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines).	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...
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...
VHL mutant	islet cell tumor	not applicable	N/A	Guideline	Risk Factor	Germline mutations in VHL result in von Hippel Lindau syndrome, which is associated with increased risk of developing pancreatic neuroendocrine tumors (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...
MLH1 negative	pancreatic adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for advanced or metastatic pancreatic adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
IDH2 mutant	acute myeloid leukemia	sensitive	Decitabine + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org).	detail...
PIK3CA mutant	Erdheim-Chester disease	sensitive	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 Guidelines).	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	skin melanoma	sensitive	Dabrafenib	Guideline	Actionable	Tafinlar (dabrafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600E, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org).	detail...
MLH1 negative	ampulla of Vater adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as first-line or subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	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...
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...
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...
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...
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...
MLH1 negative	ovarian cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as systemic therapy for patients with recurrent or advanced ovarian cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon20	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
FLT3 exon20	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
IDH1 mutant	myelofibrosis	not applicable	N/A	Guideline	Prognostic	IDH1 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org).	detail...
RET rearrange	lung non-small cell carcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as a first-line therapy for non-small cell lung cancer patients with RET rearrangements (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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines).	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...
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...
IDH1 mutant	glioblastoma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of secondary grade IV glioblastomas (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...
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...
IDH1 act mut	chondrosarcoma	sensitive	Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) is included in guidelines as systemic therapy for patients with conventional or dedifferentiated chondrosarcoma harboring an IDH1 activating mutation (NCCN.org).	detail...
RET 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...
MLH1 negative	small intestine adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 negative	germ cell cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as recurrence therapy for patients with 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...
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...
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...
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...
MLH1 negative	ampulla of Vater adenocarcinoma	sensitive	Ipilimumab + Nivolumab	Guideline	Actionable	Opdivo (nivolumab) and (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...
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	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 Guidelines).	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...
IDH1 mutant	cholangiocarcinoma	sensitive	Ivosidenib	Guideline	Actionable	Tibsovo (ivosidenib) is included in guidelines as subsequent therapy for cholangiocarcinoma patients harboring IDH1 mutations (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...
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...
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...
FLT3 exon 14 ins	acute myeloid leukemia	sensitive	Decitabine + Sorafenib	Guideline	Actionable	Nexavar (sorafenib) in combination with Dacogen (decitabine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org).	detail...
MLH1 negative	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...
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	pancreatic adenocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines for advanced or metastatic pancreatic adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	esophageal cancer	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 cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
MSH6 negative	ovarian cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent ovarian cancer with MSH6 deficiency (NCCN.org).	detail...
NRAS wild-type	rectum cancer	predicted - sensitive	Panitumumab	Guideline	Actionable	Vecitbix (pantitumumab), 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...
MLH1 negative	ovarian cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with recurrent ovarian cancer with MLH1 deficiency (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...
MLH1 negative	colon cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as preferred primary or subsequent therapy for patients with advanced or metastatic colon cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 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...
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...
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...
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
ABL1 rearrange	myeloid neoplasm	sensitive	Nilotinib	Guideline	Actionable	Tasigna (nilotinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a ABL1 rearrangement (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...
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...
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...
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	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...
RET V804M RET S904C	thyroid gland medullary carcinoma	not applicable	N/A	Guideline	Risk Factor	Compound germline RET V840M 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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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...
NRAS exon4	rectum cancer	resistant	Cetuximab	Guideline	Actionable	Erbitux (cetuximab) is not indicated for use in rectum cancer patients with NRAS exon 4 mutations (NCCN.org).	detail...
BRAF V600E	low grade glioma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent or progressive low grade glioma harboring BRAF V600E (NCCN.org).	detail...
MLH1 negative	intrahepatic cholangiocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy for patients with unresectable or metastatic intrahepatic cholangiocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), or as subsequent-line therapy (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...
RET fusion	intrahepatic cholangiocarcinoma	sensitive	Pralsetinib	Guideline	Actionable	Gavreto (pralsetinib) is included in guidelines as primary (category 2B) or subsequent-line therapy (category 2B) for patients with unresectable or metastatic intrahepatic cholangiocarcinoma harboring RET 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 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...
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...
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...
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...
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...
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines).	detail...
BRAF V600E	anaplastic oligodendroglioma	sensitive	Cobimetinib + Vemurafenib	Guideline	Actionable	Combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) is included in guidelines for patients with recurrent anaplastic gliomas harboring BRAF V600E, including anaplastic oligodendroglioma (NCCN.org).	detail...
MSH6 negative	rectum cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	gastroesophageal junction adenocarcinoma	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) gastroesophageal junction cancer that are unresectable, locally advanced, recurrent, or metastatic (NCCN.org).	detail...
JAK2 rearrange	myeloid neoplasm	sensitive	Ruxolitinib	Guideline	Actionable	Jakafi (ruxolitinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring a JAK2 rearrangement (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	not applicable	N/A	Guideline	Prognostic	Loss of TP53 is associated with a poor prognosis in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org).	detail...
TP53 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...
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...
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...
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...
FLT3 exon23	acute myeloid leukemia	sensitive	Cytarabine + Daunorubicin + Midostaurin	Guideline	Actionable	Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
BRAF 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...
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...
FGFR2 mutant	transitional cell carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr2 alterations after progression on platinum-based regimens (NCCN.org).	detail...
FGFR1 rearrange	myeloid and lymphoid neoplasms associated with FGFR1 abnormalities	sensitive	Pemigatinib	Guideline	Actionable	Pemazyre (pemigatinib) is included in guidelines (category 2B) for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an FGFR1 rearrangement (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	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...
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...
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...
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...
JAK2 exon12	polycythemia vera	not applicable	N/A	Guideline	Diagnostic	JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (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 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...
MSH6 negative	germ cell cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as recurrence therapy for patients with 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...
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...
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...
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...
BRAF V600E	rectum cancer	resistant	Panitumumab	Guideline	Actionable	Vectibix (panitumumab), as a monotherapy, is not indicated for use in rectum cancer patients with BRAF V600E (NCCN.org).	detail...
BRAF V600E	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...
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 Guidelines).	detail...
ROS1 rearrange	lung non-small cell carcinoma	sensitive	Entrectinib	Guideline	Actionable	Rozlytrek (entrectinib) is included in guidelines as a preferred therapy for patients with advanced or metastatic ROS1 rearrangement-positive non-small cell lung cancer (NCCN.org).	detail...
MSH6 negative	testicular germ cell cancer	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a third-line therapy for metastatic testicular germ cell cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
FLT3 exon23	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
FLT3 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...
ALK rearrange	inflammatory myofibroblastic tumor	sensitive	Ceritinib	Guideline	Actionable	Zykadia (ceritinib) is included in guidelines for inflammatory myofibroblastic tumor patients with ALK translocations (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...
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...
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...
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...
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...
IDH2 mutant	anaplastic astrocytoma	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of grade III astrocytomas (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...
VHL mutant	clear cell renal cell carcinoma	not applicable	N/A	Guideline	Risk Factor	Germline mutations in VHL result in von Hippel Lindau syndrome, which is associated with increased risk of developing clear cell renal cancer (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...
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines).	detail...
IDH1 mutant	acute myeloid leukemia	sensitive	Cytarabine + Venetoclax	Guideline	Actionable	Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org).	detail...
BRAF V600K	skin melanoma	sensitive	Binimetinib + Encorafenib	Guideline	Actionable	Braftovi (encorafenib) in combination with Mektovi (binimetinib) is included in guidelines as first-line and second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org).	30959471 detail...
BRAF V600X	skin melanoma	sensitive	Atezolizumab + Cobimetinib + Vemurafenib	Guideline	Actionable	Tecentriq (atezolizumab), Zelboraf (vemurafenib), and Cotellic (cobimetinib) combination therapy is included in guidelines as a preferred first-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 activating mutation (NCCN.org).	detail...
PIK3CA mutant	Erdheim-Chester disease	sensitive	Sirolimus	Guideline	Actionable	Rapamune (sirolimus) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring PIK3CA mutations (NCCN Guidelines).	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...
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...
MLH1 negative	esophageal cancer	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 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 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...
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...
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...
MSH6 negative	extrahepatic bile duct carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy for patients with unresectable or metastatic extrahepatic cholangiocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), or as subsequent-line therapy (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...
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...
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...
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...
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 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...
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines).	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 Guidelines).	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...
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...
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...
FLT3 exon18	acute myeloid leukemia	sensitive	Gilteritinib	Guideline	Actionable	Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org).	detail...
MLH1 negative	extrahepatic bile duct carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy for patients with unresectable or metastatic extrahepatic cholangiocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), or as subsequent-line therapy (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...
BRAF V600E	pilocytic astrocytoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines as an adjuvant treatment for patients with pilocytic astrocytoma harboring BRAF V600E (NCCN.org).	detail...
MSH6 mutant	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...
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...
PALB2 mutant	pancreatic adenocarcinoma	sensitive	Cisplatin + Gemcitabine	Guideline	Actionable	Platinol (cisplatin), in combination with Gemzar (gemcitabine), is included in guidelines as a first-line therapy for advanced or metastatic pancreatic adenocarcinoma patients with PALB2 mutations (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...
MSH6 negative	vulva squamous cell carcinoma	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 squamous cell carcinoma (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...
IDH2 mutant	myelofibrosis	not applicable	N/A	Guideline	Diagnostic	IDH2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org).	detail...
IDH1 R132H	high grade glioma	not applicable	N/A	Guideline	Diagnostic	IDH1 R132H is diagnostic and aids in the diagnosis of gliomas (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...
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...
JAK2 mutant	essential thrombocythemia	not applicable	N/A	Guideline	Diagnostic	JAK2 mutations aid in the diagnosis of essential thrombocythemia (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...
IDH1 mutant	anaplastic astrocytoma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of grade III astrocytomas (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	endometrial carcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as a preferred second-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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
ALK rearrange	lung non-small cell carcinoma	no benefit	Atezolizumab	Guideline	Actionable	Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org).	detail...
BRAF V600E	lung non-small cell carcinoma	sensitive	Dabrafenib + Trametinib	Guideline	Actionable	Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is in guidelines for metastatic non-small cell lung cancer patients with BRAF V600E mutations (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...
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...
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...
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...
MLH1 negative	rectum cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MLH1 mutant	small intestine adenocarcinoma	not applicable	N/A	Guideline	Risk Factor	Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org).	detail...
BRAF 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...
MSH6 negative	rectum cancer	sensitive	Nivolumab	Guideline	Actionable	Opdivo (nivolumab) is included in guidelines as a primary therapy for advanced or metastatic rectum cancer patients with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
ALK rearrange	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...
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...
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...
KMT2A - MLLT3	acute myeloid leukemia	not applicable	N/A	Guideline	Prognostic	KMT2A-MLLT3 fusions are associated with an intermediate prognosis in patients with non-APL acute myeloid leukemia (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...
NRAS exon4	rectum cancer	resistant	Panitumumab	Guideline	Actionable	Vectibix (panitumumab) is not indicated for use in rectum cancer patients with NRAS exon 4 mutations (NCCN.org).	detail...
NRAS 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...
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...
FGFR2 rearrange	cholangiocarcinoma	sensitive	Infigratinib	Guideline	Actionable	Truseltiq (infigratinib) is included in guidelines as a subsequent-line therapy for patients with cholangiocarcinoma harboring an FGFR2 fusion or rearrangement (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...
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...
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...
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines).	detail...
ALK rearrange	inflammatory myofibroblastic tumor	sensitive	Brigatinib	Guideline	Actionable	Alunbrig (brigatinib) is included in guidelines for inflammatory myofibroblastic tumor patients with ALK translocations (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...
MLH1 negative	ampulla of Vater adenocarcinoma	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for metastatic ampullary adenocarcinoma patients with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	intrahepatic cholangiocarcinoma	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as primary therapy for patients with unresectable or metastatic intrahepatic cholangiocarcinoma with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), or as subsequent-line therapy (NCCN.org).	detail...
BRAF V600E	colon cancer	sensitive	Encorafenib + Panitumumab	Guideline	Actionable	Braftovi (encorafenib) in combination with Vectibix (panitumumab) is included in guidelines as primary or subsequent therapy for patients with colon cancer harboring BRAF V600E (NCCN.org).	detail...
BRAF 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 activating mutation, such as BRAF V600K, as adjuvant therapy for stage III disease and as systemic therapy for patients with unresectable or metastatic disease (NCCN.org).	detail...
IDH1 mutant	angioimmunoblastic T-cell lymphoma	not applicable	N/A	Guideline	Diagnostic	IDH1 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org).	detail...
TP53 loss	chronic lymphocytic leukemia/small lymphocytic lymphoma	sensitive	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...
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	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	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...
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...
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...
BRAF fusion	pilocytic astrocytoma	not applicable	N/A	Guideline	Diagnostic	BRAF fusions aid in the diagnosis of pilocytic astrocytoma (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...
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...
FLT3 rearrange	childhood B-cell acute lymphoblastic leukemia	not applicable	N/A	Guideline	Prognostic	FLT3 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org).	detail...
IDH1 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...
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...
NRAS exon3	colon cancer	resistant	Panitumumab	Guideline	Actionable	Vectibix (panitumumab) is not indicated for use in colon cancer patients with NRAS exon 3 mutations (NCCN.org).	detail...
BRAF 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...
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 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...
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	stomach cancer	sensitive	Dostarlimab-gxly	Guideline	Actionable	Jemperli (dostarlimab-gxly) is included in guidelines as second-line or subsequent therapy for patients with unresectable locally advanced or metastatic gastric cancer with deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
MSH6 negative	ampulla of Vater adenocarcinoma	sensitive	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...
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...
FGFR1 rearrange	myeloid and lymphoid neoplasms associated with FGFR1 abnormalities	sensitive	Ponatinib	Guideline	Actionable	Iclusig (ponatinib) is included in guidelines for patients with a myeloid/lymphoid neoplasm with eosinophilia harboring an FGFR1 rearrangement (NCCN.org).	detail...
IDH2 mutant	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...
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...
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...
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...
MLH1 negative	neuroendocrine tumor	sensitive	Pembrolizumab	Guideline	Actionable	Keytruda (pembrolizumab) is included in guidelines as an option for patients with relapsed neuroendocrine tumors with mismatch repair deficient (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC), and no alternative options (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...
MSH6 negative	esophageal cancer	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 cancer with high microsatellite instability (MSI-H) or deficient mismatch repair (dMMR, often defined by the loss of MLH1, PMS2, MSH2, or MSH6 expression by IHC) (NCCN.org).	detail...
RET fusion	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...

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