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Molecular Profile Treatment Approach
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
ERBB2 positive Her2-receptor positive breast cancer sensitive Carboplatin + Docetaxel + Trastuzumab Guideline Actionable Taxotere (docetaxel), Paraplatin (carboplatin), and Herceptin (trastuzumab) therapy is included in the guidelines as adjuvant therapy for patients with hormone receptor-negative (ER and PR), ERBB2 (HER2)-positive breast cancer (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...
RET rearrange lung non-small cell carcinoma sensitive Vandetanib Guideline Actionable Caprelsa (vandetanib) is in guidelines for non-small cell lung cancer patients with RET rearrangements (NCCN.org). detail...
BRAF act mut thyroid gland cancer sensitive Dabrafenib Guideline Actionable Tafinlar (dabrafenib) therapy is included in guidelines for differentiated thyroid carcinoma patients with recurrent, advanced, or metastatic disease harboring BRAF activating mutations, in cases that are not surgically resectable or amenable to radioactive iodine (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...
ERBB2 positive salivary gland cancer sensitive Trastuzumab Guideline Actionable ERBB2 (HER2)-targeted therapy, including Herceptin (trastuzumab) is included in guidelines for patients with ERBB2 (HER2)-positive salivary gland tumors with distant metastases (NCCN.org). detail...
ERBB2 amp Her2-receptor positive breast cancer sensitive Paclitaxel + Pertuzumab + Trastuzumab Guideline Actionable Perjeta (pertuzumab), Herceptin (trastuzumab), and Taxol (paclitaxel) therapy is included in the guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
IDH1 mutant acute myeloid leukemia sensitive Decitabine + Venetoclax Guideline Actionable Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). detail...
RUNX1 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic RUNX1 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
ASXL1 mut CALR mut myelofibrosis not applicable N/A Guideline Prognostic The presence of a CALR mutation combined with an ASXL1 mutation is associated with intermediate survival in patients with myelofibrosis (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...
IDH1 mutant acute myeloid leukemia sensitive Cytarabine + Venetoclax Guideline Actionable Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). detail...
IDH1 mutant acute myeloid leukemia sensitive Decitabine Guideline Actionable Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). detail...
IDH1 R132H malignant glioma not applicable N/A Guideline Diagnostic IDH1 R132H is diagnostic and aids in the diagnosis of gliomas (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...
BRAF wild-type ERBB2 amp NRAS wild-type rectum cancer sensitive Lapatinib + Trastuzumab Guideline Actionable Herceptin (trastuzumab) in combination with Tykerb (lapatinib) is included in guidelines as second-line therapy for advanced or metastatic rectum cancer patients with ERBB2 amplification and wild-type NRAS and BRAF (NCCN.org). detail...
ERBB2 over exp Her2-receptor positive breast cancer sensitive Trastuzumab deruxtecan Guideline Actionable Enhertu (fam-trastuzumab deruxtecan-nxki) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
NRAS G12X myelodysplastic syndrome not applicable N/A Guideline Prognostic NRAS G12X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
ERBB2 over exp Her2-receptor positive breast cancer sensitive Capecitabine + Lapatinib Guideline Actionable Tykerb (lapatinib) combined with Xeloda (capecitabine) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
BRAF V600X skin melanoma sensitive Cobimetinib + Vemurafenib Guideline Actionable Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines for patients with metastatic or unresectable cutaneous melanoma harboring a BRAF V600 activating mutation (NCCN.org). detail...
RUNX1 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...
IDH1 mutant grade III astrocytoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org). detail...
SMARCB1 del epithelioid sarcoma not applicable N/A Guideline Diagnostic SMARCB1 deletion aids the diagnosis of epithelioid sarcoma (NCCN.org). detail...
RET 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...
PDGFRA D842V gastrointestinal stromal tumor resistant Imatinib Guideline Actionable Gleevec (imatinib) is not indicated for use in gastrointestinal stromal tumor (GIST) patients with PDGFRA D842V mutations (NCCN.org). detail...
ALK rearrange lung non-small cell carcinoma sensitive Lorlatinib Guideline Actionable Lorbrena (lorlatinib) is included in guidelines as subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer that have progressed on Xalkori (crizotinib) and Alecensa (alectinib), Alunbrig (brigatinib), or Zykadia (ceritinib), or on Alecensa (alectinib), Alunbrig (brigatinib), or Zykadia (ceritinib)(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...
ETV6 - NTRK3 congenital fibrosarcoma not applicable N/A Guideline Diagnostic ETV6-NTRK3 fusions aid the diagnosis of congenital fibrosarcoma (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...
ERBB2 over exp gastroesophageal junction adenocarcinoma sensitive Trastuzumab Guideline Actionable Herceptin (trastuzumab), in combination with fluoropyrimidine and cisplatin, or other chemotherapy agents, but not anthracyclines, is included in guidelines for Erbb2 (Her2)-overexpressing metastatic esophagogastric junction adenocarcinoma patients (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...
ERBB2 amp Her2-receptor positive breast cancer sensitive Capecitabine + Trastuzumab Guideline Actionable Herceptin (trastuzumab) combined with Xeloda (capecitabine) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
SF3B1 N626X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 N626X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
NRAS G13X myelodysplastic syndrome not applicable N/A Guideline Prognostic NRAS G13X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
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...
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...
IDH2 mutant acute myeloid leukemia sensitive Cytarabine + Venetoclax Guideline Actionable Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org). detail...
BRAF 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...
CDH1 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline truncating mutations in CDH1 are associated with hereditary diffuse gastric cancer, which is characterized by increased risk of developing gastric cancer (NCCN.org). detail...
U2AF1 Q157X myelodysplastic syndrome not applicable N/A Guideline Prognostic U2AF1 Q157X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
ERBB2 amp Her2-receptor positive breast cancer sensitive Carboplatin + Paclitaxel + Trastuzumab Guideline Actionable Herceptin combined with Paraplatin (carboplatin) and Taxol (paclitaxel) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
U2AF1 S34X myelodysplastic syndrome not applicable N/A Guideline Prognostic U2AF1 S34X is associated with a poor prognosis in patients with myelodysplastic syndrome (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...
IDH1 mutant glioblastoma multiforme not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of secondary grade IV glioblastomas (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...
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...
IDH1 mutant astrocytoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of grade II and grade III astrocytomas (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...
IDH2 mutant grade III astrocytoma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org). detail...
IDH2 mutant acute myeloid leukemia sensitive Azacitidine Guideline Actionable Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH2 mutation (NCCN.org). detail...
IDH1 mutant malignant 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
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
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...
ERBB2 over exp Her2-receptor positive breast cancer sensitive Ado-trastuzumab emtansine Guideline Actionable Kadcyla (ado-trastuzumab emtansine) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (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...
ALK rearrange lung non-small cell carcinoma sensitive Crizotinib Guideline Actionable Xalkori (crizotinib) is included in guidelines as first-line and subsequent therapy for ALK rearranged non-small cell lung cancer (NCCN.org). detail...
ERBB2 over exp Her2-receptor positive breast cancer sensitive Docetaxel + Trastuzumab Guideline Actionable Herceptin (trastuzumab) combined with Taxotere (docetaxel) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
SRSF2 P95X myelodysplastic syndrome not applicable N/A Guideline Prognostic SRSF2 P95X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
IDH2 R172X myelodysplastic syndrome not applicable N/A Guideline Prognostic IDH2 R172X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
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...
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...
ERBB2 amp Her2-receptor positive breast cancer sensitive Docetaxel + Trastuzumab Guideline Actionable Herceptin (trastuzumab) combined with Taxotere (docetaxel) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
ERBB2 over exp Her2-receptor positive breast cancer sensitive Docetaxel + Pertuzumab + Trastuzumab Guideline Actionable Perjeta (pertuzumab), Herceptin (trastuzumab), and Taxotere (docetaxel) therapy is included in the guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
JAK2 V617F myelofibrosis not applicable N/A Guideline Prognostic JAK2 V617F is associated with intermediate prognosis and higher risk of thrombosis when compared to the presence of CALR mutations in patients with primary myelofibrosis (NCCN.org). detail...
FLT3 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...
BCOR mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic BCOR mutations, including those at codon N1425, are associated with a poor prognosis in patients with myelodysplastic syndrome (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...
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...
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...
IDH2 mutant astrocytoma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of grade II and grade III astrocytomas (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...
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...
STK11 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in STK11 result in Peutz Jeghers syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
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...
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...
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...
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...
ERBB2 over exp gastric adenocarcinoma sensitive Trastuzumab Guideline Actionable Herceptin (trastuzumab) in combination with fluoropyrimidine and cisplatin (category 1) or other platinum agents (category 2A), but not anthracyclines, is included in guidelines as first-line therapy for Erbb2 (Her2)-overexpressing metastatic gastric adenocarcinoma patients (NCCN.org) detail...
ALK rearrange lung non-small cell carcinoma sensitive Brigatinib Guideline Actionable Alunbrig (brigatinib) is included in guidelines as first-line and subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (NCCN.org). detail...
FLT3 exon 14 ins NPM1 wild-type acute myeloid leukemia not applicable N/A Guideline Prognostic FLT3 exon 14 insertions (high allelic ratio of ITD mutations) with NPM1 wild-type are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
ERBB2 amp Her2-receptor positive breast cancer sensitive Docetaxel + Pertuzumab + Trastuzumab Guideline Actionable Perjeta (pertuzumab), Herceptin (trastuzumab), and Taxotere (docetaxel) therapy is included in the guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (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...
CALR L367fs myelofibrosis not applicable N/A Guideline Prognostic The presence of the CALR type 1 mutation, L367fs, or a type 1-like mutation is associated with improved overall survival compared to a CALR type 2 (K385fs) or CALR type 2-like mutation and JAK2 V617F in patients with myelofibrosis (NCCN.org). detail...
SF3B1 H662X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 H662X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (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...
U2AF1 mutant myelofibrosis not applicable N/A Guideline Prognostic U2AF1 mutations are associated with inferior overall survival in patients with primary myelofibrosis (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...
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...
ERBB2 amp Her2-receptor positive breast cancer sensitive Trastuzumab deruxtecan Guideline Actionable Enhertu (fam-trastuzumab deruxtecan-nxki) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
EZH2 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic EZH2 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (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...
IDH2 wild-type malignant 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...
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...
PDGFRA exon18 gastrointestinal stromal tumor sensitive Avapritinib Guideline Actionable Ayvakit (avapritinib) is included in the guidelines for patients with unresectable/metastatic gastrointestinal stromal tumor (GIST) with PDGFRA exon 18 mutations, including PDGFRA D842V (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...
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...
IDH2 mutant polycythemia vera not applicable N/A Guideline Prognostic IDH2 mutations are associated with inferior overall survival and leukemia-free survival in patients with polycythemia vera (NCCN.org). detail...
FLT3 wild-type NPM1 wild-type acute myeloid leukemia not applicable N/A Guideline Prognostic NPM1 wild-type with FLT3 wild-type (no or low allelic ratio of ITD mutations) is associated with an intermediate prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
ERBB2 amp Her2-receptor negative breast cancer sensitive Capecitabine + Lapatinib Guideline Actionable Tykerb (lapatinib) combined with Xeloda (capecitabine) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
FGFR2 rearrange intrahepatic cholangiocarcinoma sensitive Pemigatinib Guideline Actionable Pemazyre (pemigatinib) is included in guidelines as subsequent-line therapy for intrahepatic cholangiocarcinoma patients with disease progression harboring an FGFR2 fusion or 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...
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...
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...
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...
MYD88 mutant marginal zone B-cell lymphoma not applicable N/A Guideline Diagnostic MYD88 mutations are used to differentiate Waldenstroem's macroglobulinemia from marginal zone B-cell lymphoma in the presence of plasmacytic differentiation (NCCN.org). detail...
ERBB2 amp Her2-receptor positive breast cancer sensitive Capecitabine + Trastuzumab + Tucatinib Guideline Actionable Tukysa (tucatinib), Herceptin (trastuzumab), and Xeloda (capecitabine) combination therapy is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (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...
ERBB2 over exp Her2-receptor positive breast cancer sensitive Lapatinib + Trastuzumab Guideline Actionable Herceptin (trastuzumab) combined with Tykerb (lapatinib) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
MYD88 mutant MALT lymphoma not applicable N/A Guideline Diagnostic MYD88 mutations aid in the diagnosis of MALT lymphoma (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...
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...
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...
ERBB2 positive Her2-receptor positive breast cancer sensitive Cyclophosphamide + Doxorubicin + Paclitaxel + Trastuzumab Guideline Actionable Sequential therapy, Adriamycin (doxorubicin) and Cytoxan (cyclophosphamide), followed by Taxol (paclitaxel) plus Herceptin (trastuzumab), is included in the guidelines as adjuvant therapy for patients with hormone receptor-negative (ER and PR), ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
MLH1 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
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...
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 who have progressed on Xalkori (crizotinib) or Zykadia (ceritinib) (NCCN.org). detail...
ERBB2 over exp Her2-receptor positive breast cancer sensitive Trastuzumab + Vinorelbine Guideline Actionable Herceptin (trastuzumab) combined with Navelbine (vinorelbine) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast 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...
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...
SRSF2 mutant myelofibrosis not applicable N/A Guideline Prognostic SRSF2 mutations are associated with inferior overall survival and leukemia-free survival in patients with myelofibrosis (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...
ERBB2 positive Her2-receptor positive breast cancer sensitive Carboplatin + Docetaxel + Pertuzumab + Trastuzumab Guideline Actionable Taxotere (docetaxel), Paraplatin (carboplatin), and Herceptin (trastuzumab) plus Perjeta (pertuzumab) therapy, is included in the guidelines as adjuvant therapy for patients with hormone receptor-negative (ER and PR), ERBB2 (HER2)-positive breast cancer who are node positive (NCCN.org). detail...
IDH1 mutant oligodendroglioma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org). detail...
ETV6 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic ETV6 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (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...
SF3B1 T663X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 T663X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
CTNNB1 mutant desmoid tumor not applicable N/A Guideline Diagnostic CTNNB1 mutations aid the diagnosis of desmoid tumor (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...
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...
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...
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...
SF3B1 D781X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 D781X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
MYD88 mutant nodal marginal zone lymphoma not applicable N/A Guideline Diagnostic MYD88 mutations aid in the diagnosis of nodal marginal zone lymphoma (NCCN.org). detail...
FLT3 exon17 acute myeloid leukemia sensitive Gilteritinib Guideline Actionable Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). detail...
CEBPA mutant acute myeloid leukemia not applicable N/A Guideline Prognostic CEBPA biallelic mutations are associated with a favorable prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
ERBB2 mutant lung non-small cell carcinoma no benefit Afatinib Guideline Actionable Gilotrif (afatinib) is not recommended as a monotherapy in guidelines for non-small cell lung cancer patients with ERBB2 mutations (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...
SRSF2 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...
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...
ASXL1 mutant polycythemia vera not applicable N/A Guideline Prognostic ASXL1 mutations are associated with inferior overall survival and myelofibrosis-free survival in patients with polycythemia vera (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...
SF3B1 K700E myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 K700E is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 E622X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 E622X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
ASXL1 mutant acute myeloid leukemia not applicable N/A Guideline Prognostic ASXL1 mutations are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (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...
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...
GATA2 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic GATA2 frameshift, nonsense, or splice site mutations, or missense mutations in codons 349-398 are associated with poor prognosis in patients with myelodysplastic syndrome (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...
U2AF1 Q157X myelofibrosis not applicable N/A Guideline Prognostic U2AF1 Q157 mutations are associated with inferior overall survival compared to U2AF1 S34 mutations or wild-type U2AF1 in patients with primary myelofibrosis (NCCN.org). detail...
BRAF act mut thyroid gland cancer sensitive Vemurafenib Guideline Actionable Zelboraf (vemurafenib) therapy is included in guidelines for differentiated thyroid carcinoma patients with recurrent, advanced, or metastatic disease harboring BRAF activating mutations, in cases that are not surgically resectable or amenable to radioactive iodine (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...
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...
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...
ERBB2 over exp Her2-receptor positive breast cancer sensitive Capecitabine + Trastuzumab + Tucatinib Guideline Actionable Tukysa (tucatinib), Herceptin (trastuzumab), and Xeloda (capecitabine) combination therapy is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
Unknown unknown lung small cell carcinoma not applicable Nivolumab Guideline Actionable Opdivo (nivolumab) is included in guidelines for small cell lung cancer patients who have relapsed after primary therapy (NCCN.org). detail...
FLT3 wild-type NPM1 mut acute myeloid leukemia not applicable N/A Guideline Prognostic NPM1 mutations with FLT3 wild-type (no or low allelic ratio of ITD mutations) are associated with a favorable prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
MYD88 mutant splenic marginal zone lymphoma not applicable N/A Guideline Diagnostic MYD88 mutations aid in the diagnosis of splenic marginal zone lymphoma (NCCN.org). detail...
EZH2 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, EZH2 mutations are also associated with inferior leukemia-free survival (NCCN.org). detail...
ERBB2 over exp Her2-receptor positive breast cancer sensitive Paclitaxel + Pertuzumab + Trastuzumab Guideline Actionable Perjeta (pertuzumab), Herceptin (trastuzumab), and Taxol (paclitaxel) therapy is included in the guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2) receptor-positive breast cancer (NCCN.org). detail...
ATRX loss IDH1 mut astrocytoma not applicable N/A Guideline Diagnostic ATRX deficiency in combination with IDH mutation aids in the diagnosis of astrocytoma (NCCN.org). detail...
ASXL1 mutant chronic myelomonocytic leukemia not applicable N/A Guideline Prognostic ASXL1 mutations are associated with a poor prognosis in patients with chronic myelomonocytic leukemia (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
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...
BRAF V600E pleomorphic xanthoastrocytoma sensitive Dabrafenib + Trametinib Guideline Actionable Mekinist (trametinib) and Tafinlar (dabrafenib) combination therapy is included in guidelines as an adjuvant treatment for patients with pleomorphic xanthoastrocytoma harboring BRAF V600E (NCCN.org). detail...
BRAF V600E 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...
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...
ERBB2 mutant lung non-small cell carcinoma sensitive Ado-trastuzumab emtansine Guideline Actionable Kadcyla (trastuzumab emtansine) is included in guidelines for non-small cell lung cancer patients with ERBB2 (HER2) mutations (NCCN.org). detail...
ALK rearrange anaplastic large cell lymphoma sensitive Crizotinib Guideline Actionable Xalkori (crizotinib) is included in guidelines as second-line and subsequent therapy for patients with anaplastic large cell lymphoma harboring ALK rearrangements (NCCN.org). detail...
FLT3 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...
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...
ZRSR2 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic ZRSR2 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
U2AF1 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic U2AF1 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (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...
FLT3 exon 14 ins acute myeloid leukemia sensitive Decitabine + Sorafenib Guideline Actionable Nexavar (sorafenib) in combination with Dacogen (decitabine) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a FLT3 internal tandem duplication (FLT3-ITD) mutation (NCCN.org). detail...
BRAF 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...
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...
ERBB2 amp Her2-receptor positive breast cancer sensitive Capecitabine + Neratinib Guideline Actionable Nerlynx (neratinib) combined with Xeloda (capecitabine) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
ATRX loss IDH2 mut astrocytoma not applicable N/A Guideline Diagnostic ATRX deficiency in combination with IDH mutation aids in the diagnosis of astrocytoma (NCCN.org). detail...
PDGFRA act mut gastrointestinal stromal tumor not applicable N/A Guideline Diagnostic PDGFRA activating mutations aid the diagnosis of gastrointestinal stromal tumor (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...
ERBB2 amp Her2-receptor positive breast cancer sensitive Trastuzumab + Vinorelbine Guideline Actionable Herceptin (trastuzumab) combined with Navelbine (vinorelbine) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (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...
RUNX1 mutant acute myeloid leukemia not applicable N/A Guideline Prognostic RUNX1 mutations are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
ASXL1 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic ASXL1 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (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...
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...
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...
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...
MYD88 L265P Waldenstroem's macroglobulinemia not applicable N/A Guideline Diagnostic MYD88 L265P is diagnostic and aids distinguishing Waldenstrom macroglobulinemia from IgM-secreting B-cell lymphomas and IgM plasma cell myeloma (NCCN.org). detail...
STAG2 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic STAG2 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
IDH2 mutant malignant 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 lung non-small cell carcinoma sensitive Dabrafenib Guideline Actionable Tafinlar (dabrafenib) 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...
MLH1 mutant colon cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). detail...
MSH6 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...
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...
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...
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...
SF3B1 mutant uveal melanoma not applicable N/A Guideline Risk Factor SF3B1 mutations are associated with medium risk of developing distant metastasis in uveal melanoma (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...
ERBB2 positive Her2-receptor positive breast cancer sensitive Cyclophosphamide + Doxorubicin + Paclitaxel + Pertuzumab + Trastuzumab Guideline Actionable Sequential therapy, Adriamycin (doxorubicin) and Cytoxan (cyclophosphamide), followed by Taxol (paclitaxel) plus Herceptin (trastuzumab) and Perjeta (pertuzumab), is included in the guidelines as adjuvant therapy for patients with hormone receptor-negative (ER and PR), ERBB2 (HER2)-positive breast cancer who are node positive (NCCN.org). detail...
FLT3 exon 14 ins NPM1 mut acute myeloid leukemia not applicable N/A Guideline Prognostic FLT3 exon 14 insertions (high allelic ratio of ITD mutations) with NPM1 mutations are associated with an intermediate prognosis in patients with non-APL acute myeloid leukemia (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...
CALR wild-type JAK2 wild-type MPL wild-type myelofibrosis not applicable N/A Guideline Prognostic The presence of concurrent wild-type JAK2, MPL, and CALR in myelofibrosis patients is associated with inferior leukemia-free survival compared to patients with JAK2 and/or CALR mutations, and is associated with inferior overall survival when compared to patients with CALR mutations (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 wild-type ERBB2 amp NRAS wild-type colon cancer sensitive Lapatinib + Trastuzumab Guideline Actionable Herceptin (trastuzumab) in combination with Tykerb (lapatinib) is included in guidelines as second-line therapy for advanced or metastatic colon cancer patients with ERBB2 amplification and NRAS, BBRAF wild-type (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...
SF3B1 Y623X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 Y623X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
ERBB2 over exp Her2-receptor positive breast cancer sensitive Capecitabine + Trastuzumab Guideline Actionable Herceptin (trastuzumab) combined with Xeloda (capecitabine) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
BRAF V600K skin melanoma sensitive Vemurafenib Guideline Actionable Zelboraf (vemurafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600K, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org). detail...
BRAF V600E skin melanoma sensitive Vemurafenib Guideline Actionable Zelboraf (vemurafenib) therapy is included in guidelines for cutaneous melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600E, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org). detail...
FLT3 exon18 acute myeloid leukemia sensitive Cytarabine + Daunorubicin + Midostaurin Guideline Actionable Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). detail...
RET fusion 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...
SF3B1 G740X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 G740X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (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...
FLT3 exon14 acute myeloid leukemia sensitive Cytarabine + Daunorubicin + Midostaurin Guideline Actionable Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). detail...
FLT3 exon22 acute myeloid leukemia sensitive Cytarabine + Daunorubicin + Midostaurin Guideline Actionable Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). detail...
NRAS 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 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...
FGFR3 mutant transitional cell carcinoma sensitive Erdafitinib Guideline Actionable Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr3 alterations after progression on platinum-based regimens (NCCN.org). detail...
RET 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...
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...
MPL W515L myelofibrosis not applicable N/A Guideline Prognostic MPL W515L 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...
ERBB2 positive uterine corpus serous adenocarcinoma sensitive Carboplatin + Paclitaxel + Trastuzumab Guideline Actionable Combination Paraplatin (carboplatin), Taxol (paclitaxel), and Herceptin (trastuzumab) is in guidelines for ERBB2 (HER2)-positive patients with advanced and recurrent uterine serous carcinoma (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/K skin melanoma sensitive Binimetinib + Encorafenib Guideline Actionable Braftovi (encorafenib) in combination with Mektovi (binimetinib) is included in guidelines as first-line and second-line therapy for patients with metastatic or unresectable cutaneous melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org). 30959471 detail...
BRAF mutant splenic marginal zone lymphoma not applicable N/A Guideline Diagnostic BRAF mutations aid in the diagnosis of splenic marginal zone lymphoma (NCCN.org). detail...
BRAF V600E pilocytic astrocytoma sensitive Dabrafenib + Trametinib Guideline Actionable Combination of Mekinist (trametinib) and Tafinlar (dabrafenib) is included in guidelines as an adjuvant treatment for patients with pilocytic astrocytoma harboring BRAF V600E (NCCN.org). detail...
FLT3 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...
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...
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...
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...
ASXL1 mutant myelofibrosis not applicable N/A Guideline Prognostic ASXL1 mutations are associated with inferior overall survival and leukemia-free survival in patients with myelofibrosis (NCCN.org). detail...
KMT2A rearrange acute myeloid leukemia not applicable N/A Guideline Prognostic KMT2A rearrangements (t(v;11q23.3)) are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
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...
ERBB2 mutant lung non-small cell carcinoma no benefit Trastuzumab Guideline Actionable Herceptin (trastuzumab) is not recommended as a monotherapy in guidelines for non-small cell lung cancer patients with ERBB2 mutations (NCCN.org). detail...
BRAF V600K skin melanoma sensitive Dabrafenib + Trametinib Guideline Actionable Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for melanoma patients harboring a BRAF V600 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...
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...
ATRX mutant malignant glioma not applicable N/A Guideline Diagnostic ATRX mutations aid in the diagnosis of gliomas (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...
CALR mutant myelofibrosis not applicable N/A Guideline Prognostic CALR mutations are associated with improved survival when compared to JAK2 mutations or concurrent wild-type CALR, MPL, and JAK2 in patients with primary myelofibrosis (NCCN.org). detail...
ERBB2 amp Her2-receptor positive breast cancer sensitive Lapatinib + Trastuzumab Guideline Actionable Herceptin (trastuzumab) combined with Tykerb (lapatinib) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (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...
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...
IDH2 mutant oligodendroglioma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org). detail...
APC mutant desmoid tumor not applicable N/A Guideline Diagnostic APC mutations aid the diagnosis of desmoid tumor (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...
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...
SMARCB1 inact mut rhabdoid cancer not applicable N/A Guideline Diagnostic SMARCB1 inactivating mutations aid the diagnosis of extrarenal rhabdoid tumor (NCCN.org). detail...
CTNNB1 mutant medulloblastoma not applicable N/A Guideline Prognostic WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org). detail...
ERBB2 over exp Her2-receptor positive breast cancer sensitive Carboplatin + Paclitaxel + Trastuzumab Guideline Actionable Herceptin combined with Paraplatin (carboplatin) and Taxol (paclitaxel) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
MSH6 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
FLT3 exon15 acute myeloid leukemia sensitive Cytarabine + Daunorubicin + Midostaurin Guideline Actionable Rydapt (midostaurin), in combination with Cerubidine (daunorubicin) and Cytosar-U (cytarabine), is included in guidelines for patients with acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). detail...
NRAS 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...
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 mutant acute myeloid leukemia sensitive Decitabine + Venetoclax Guideline Actionable Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring a FLT3 mutation (NCCN.org). detail...
ALK rearrange lung non-small cell carcinoma no benefit 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...
ALK rearrange lung non-small cell carcinoma sensitive Alectinib Guideline Actionable Alecensa (alectinib) is included in guidelines as the preferred first-line therapy and as subsequent therapy for patients with ALK-rearranged advanced or metastatic non-small cell lung cancer (NCCN.org). detail...
NRAS exon4 colon cancer resistant Panitumumab Guideline Actionable Vectibix (panitumumab) is not indicated for use in colon cancer patients with NRAS exon 4 mutations (NCCN.org). detail...
SF3B1 G742X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 G742X is associated with a more favorable 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...
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...
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...
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...
RUNX1 mutant polycythemia vera not applicable N/A Guideline Prognostic RUNX1 mutations are associated with inferior overall survival and leukemia-free survival in patients with polycythemia vera (NCCN.org). detail...
SMAD4 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in SMAD4 or BMPR1A result in juvenile polyposis syndrome, which is associated with increased risk of developing gastric cancer (NCCN.org). detail...
BRAF wild-type ERBB2 amp NRAS wild-type rectum cancer sensitive Pertuzumab + Trastuzumab Guideline Actionable Herceptin (trastuzumab) in combination with Perjeta (pertuzumab) is included in guidelines as second-line therapy for advanced or metastatic rectum cancer patients with ERBB2 amplification and wild-type NRAS and BRAF (NCCN.org). detail...
FLT3 exon22 acute myeloid leukemia sensitive Gilteritinib Guideline Actionable Xospata (gilteritinib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring a mutation in the FLT3 tyrosine kinase domain (exons 14-23) (NCCN.org). detail...
FLT3 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...
ASXL1 mut CALR wild-type myelofibrosis not applicable N/A Guideline Prognostic The presence of an ASXL1 mutation combined with wild-type CALR is associated with shorter survival in patients with myelofibrosis (NCCN.org). detail...
Unknown unknown lung small cell carcinoma not applicable Atezolizumab + Carboplatin + Etoposide Guideline Actionable Tecentriq (atezolizumab), Paraplatin (carboplatin), and Vepesid (etoposide) combination treatment is included in guidelines as a preferred first-line systemic therapy for patients with advanced small cell lung cancer (NCCN.org). detail...
IDH1 wild-type malignant 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...
SF3B1 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, SF3B1 mutations are also associated with inferior myelofibrosis-free survival (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...
SF3B1 I704X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 I704X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (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...
RUNX1 - RUNX1T1 acute myeloid leukemia not applicable N/A Guideline Prognostic RUNX1-RUNX1T1 fusions (t(8;21)(q22;q22.1)) are associated with a favorable prognosis in patients with non-APL acute myeloid leukemia (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...
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...
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...
PDGFRA mutant gastrointestinal stromal tumor sensitive Imatinib Guideline Actionable Gleevec (imatinib) is included in the guidelines as first-line therapy for patients with gastrointestinal stromal tumor (GIST) with PDGFRA mutations (NCCN.org). detail...
ERBB2 amp Her2-receptor positive breast cancer sensitive Ado-trastuzumab emtansine Guideline Actionable Kadcyla (ado-trastuzumab emtansine) is included in guidelines as systemic therapy for patients with recurrent or metastatic hormone receptor-positive (ER and/or PR) or negative, ERBB2 (HER2)-positive breast cancer (NCCN.org). detail...
EZH2 mutant myelofibrosis not applicable N/A Guideline Prognostic EZH2 mutations are associated with inferior overall survival in patients with myelofibrosis (NCCN.org). detail...
SF3B1 R625X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 R625X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
PDGFRA D842V gastrointestinal stromal tumor sensitive Dasatinib Guideline Actionable Sprycel (dasatinib) is included in the guidelines for patients with gastrointestinal stromal tumor (GIST) with PDGFRA D842V 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...
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...
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...
ALK rearrange lung non-small cell carcinoma no benefit Durvalumab Guideline Actionable Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org). detail...
RET 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...
ASXL1 wild-type CALR mut myelofibrosis not applicable N/A Guideline Prognostic The presence of a CALR mutation combined with wild-type ASXL1 is associated with longer survival in patients with myelofibrosis (NCCN.org). detail...
Unknown unknown lung small cell carcinoma not applicable Pembrolizumab Guideline Actionable Keytruda (pembrolizumab) is included in guidelines for small cell lung cancer patients who have relapsed after primary therapy (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...
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...
FGFR2 fusion intrahepatic cholangiocarcinoma sensitive Pemigatinib Guideline Actionable Pemazyre (pemigatinib) is included in guidelines as subsequent-line therapy for intrahepatic cholangiocarcinoma patients with disease progression harboring an FGFR2 fusion or rearrangement (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 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...
BRAF V600X skin melanoma sensitive Dabrafenib + Trametinib Guideline Actionable Tafinlar (dabrafenib) and Mekinist (trametinib) combination therapy is included in guidelines for patients with cutaneous melanoma harboring a BRAF V600 activating mutation, as adjuvant treatment for patients with Stage III disease, or as systemic therapy for patients with unresectable or metastatic disease (NCCN.org). detail...
ALK rearrange lung non-small cell carcinoma no benefit Nivolumab Guideline Actionable Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org). detail...
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...
SF3B1 K666X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 K666X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (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...
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...
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...
SMARCB1 inact mut epithelioid sarcoma not applicable N/A Guideline Diagnostic SMARCB1 inactivating mutations aid the diagnosis of epithelioid sarcoma (NCCN.org). detail...
SRSF2 mutant polycythemia vera not applicable N/A Guideline Prognostic SRSF2 mutations are associated with inferior overall survival in patients with polycythemia vera (NCCN.org). detail...
STK11 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in STK11 result in Peutz Jeghers syndrome, which is associated with increased risk of developing gastric cancer (NCCN.org). detail...
BRAF wild-type ERBB2 amp NRAS wild-type colon cancer sensitive Pertuzumab + Trastuzumab Guideline Actionable Herceptin (trastuzumab) in combination with Perjeta (pertuzumab) is included in guidelines as second-line therapy for advanced or metastatic colon cancer patients with ERBB2 amplification and NRAS, BRAF wild-type (NCCN.org). detail...
EZH2 mutant follicular lymphoma predicted - sensitive Tazemetostat Guideline Actionable Tazverik (tazemetostat) is included in guidelines as a second-line or subsequent therapy for patients with follicular lymphoma harboring EZH2 mutations (NCCN.org). detail...
NPM1 W288fs myelodysplastic syndrome not applicable N/A Guideline Prognostic NPM1 W288fs mutations are associated with poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
IDH2 mutant glioblastoma multiforme not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of secondary grade IV glioblastomas (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...
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...
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...
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...
MPL W515K myelofibrosis not applicable N/A Guideline Prognostic MPL W515K 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...
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...
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...
PDGFRA D842V gastrointestinal stromal tumor sensitive Avapritinib Guideline Actionable Ayvakit (avapritinib) is included in the guidelines for patients with unresectable/metastatic gastrointestinal stromal tumor (GIST) with PDGFRA exon 18 mutations, including PDGFRA D842V (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...
ERBB2 over exp esophagus adenocarcinoma sensitive Trastuzumab Guideline Actionable Herceptin (trastuzumab), in combination with first-line chemotherapy with fluoropyrimidine and cisplatin or other chemotherapy agents, but not anthracyclines, is included in guidelines for Erbb2 (Her2)-overexpressing metastatic esophageal adenocarcinoma patients (NCCN.org) detail...
STK11 mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Peutz-Jeghers syndrome often results from mutations in the STK11 gene, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
RET 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...
EZH2 mutant myelodysplastic/myeloproliferative neoplasm not applicable N/A Guideline Prognostic EZH2 mutations are associated with a poor prognosis in patients with myelodysplastic/myeloproliferative neoplasm (NCCN.org). detail...
Unknown unknown lung small cell carcinoma not applicable Ipilimumab + Nivolumab Guideline Actionable Opdivo (nivolumab) and Yervoy (ipilimumab) combination treatment is included in guidelines for small cell lung cancer patients who have relapsed after primary therapy (NCCN.org). detail...
IDH2 mutant malignant glioma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of gliomas (NCCN.org). detail...
IDH1 mutant malignant 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...
U2AF1 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, RUNX1 mutations are also associated with inferior leukemia-free survival (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...
ROS1 rearrange lung non-small cell carcinoma no benefit Afatinib Guideline Actionable EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ROS1 rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org). detail...
BRAF V600E pilocytic astrocytoma sensitive Cobimetinib + Vemurafenib Guideline Actionable Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines as an adjuvant treatment for patients with pilocytic astrocytoma harboring BRAF V600E (NCCN.org). detail...
BRAF V600E 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...