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Title NCCN.org
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URL https://www.nccn.org/professionals/physician_gls/default.aspx
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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
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
BRAF V600K melanoma sensitive Vemurafenib Guideline Actionable Zelboraf (vemurafenib) therapy is included in guidelines for 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...
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...
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 NRAS wild-type (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...
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...
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...
NRAS exon 2 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...
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...
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...
ALK positive lung non-small cell carcinoma sensitive Ceritinib Guideline Actionable Zykadia (ceritinib) is included in guidelines as first-line therapy for ALK rearranged non-small cell lung cancer patients, and as subsequent therapy in patients whose disease progressed after Xalkori (crizotinib) therapy (NCCN.org). detail...
ALK fusion inflammatory myofibroblastic tumor sensitive Crizotinib Guideline Actionable Xalkori (crizotinib) is included in guidelines for inflammatory myofibroblastic tumor patients with ALK translocations (NCCN.org). detail...
BRAF V600E rectum cancer sensitive Binimetinib + Cetuximab + Encorafenib Guideline Actionable Braftovi (encorafenib), Mektovi (binimetinib), Erbitux (cetuximab), combination therapy is included in guidelines as a second-line therapy for advanced or metastatic rectum cancer patients harboring BRAF V600E (NCCN.org). detail...
KRAS exon 4 rectum cancer resistant Cetuximab Guideline Actionable Erbitux (cetuximab) is not indicated for use in rectum cancer patients with KRAS exon 4 mutation (NCCN.org). detail...
ERBB2 amp KRAS 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 KRAS wild-type (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 V600E melanoma sensitive Cobimetinib + Vemurafenib Guideline Actionable Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in melanoma guidelines for patients with metastatic or unresectable disease harboring a BRAF V600 activating mutation (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...
BRAF V600E colon cancer sensitive Dabrafenib + Panitumumab + Trametinib Guideline Actionable Tafinlar (dabrafenib), Mekinist (trametinib), Vectibix (panitumumab), combination therapy is included in guidelines as a second-line therapy for advanced or metastatic colon cancer patients harboring BRAF V600E (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...
RET C634X thyroid 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...
BRAF V600K melanoma sensitive Dabrafenib Guideline Actionable Tafinlar (dabrafenib) therapy is included in guidelines for 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...
SMARCB1 inact mut epithelioid sarcoma not applicable N/A Guideline Diagnostic SMARCB1 inactivating mutations aid the diagnosis of epithelioid sarcoma (NCCN.org). detail...
NRAS G13X myelodysplastic syndrome not applicable N/A Guideline Prognostic NRAS G13X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
NRAS exon 3 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...
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...
NRAS G12X myelodysplastic syndrome not applicable N/A Guideline Prognostic NRAS G12X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
MSH6 mutant endometrial cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing endometrial 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, SF3B1, EZH2, or TP53 is associated with inferior overall survival in patients with essential thrombocythemia (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...
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...
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...
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...
ALK fusion inflammatory myofibroblastic tumor sensitive Ceritinib Guideline Actionable Zykadia (ceritinib) is included in guidelines for inflammatory myofibroblastic tumor patients with ALK translocations (NCCN.org). detail...
BRAF V600E 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 V600E, as adjuvant therapy for stage III disease and as systemic therapy for patients with unresectable or metastatic disease (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...
NRAS exon 4 colon cancer resistant Cetuximab Guideline Actionable Erbitux (cetuximab) is not indicated for use in colon cancer patients with NRAS exon 4 mutations (NCCN.org). detail...
NRAS exon 2 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...
KRAS mutant lung non-small cell carcinoma no benefit Osimertinib Guideline Actionable KRAS mutations are associated with lack of efficacy with EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) in patients with non-small cell lung cancer (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...
NRAS exon 2 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...
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...
TP53 loss CLL/SLL sensitive Venetoclax Guideline Actionable Venclexta (venetoclax) is indicated in the guidelines for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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...
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 for patients with small cell lung cancer (NCCN.org). detail...
RET V804M + RET Y806C thyroid 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...
RET A883X thyroid 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...
ERBB2 amp KRAS 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 KRAS wild-type (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...
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...
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...
EZH2 mutant essential thrombocythemia not applicable N/A Guideline Prognostic The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SF3B1, EZH2, or TP53 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org). detail...
BRCA1 inact mut ovarian cancer sensitive Rucaparib Guideline Actionable Rubraca (rucaparib) is included in the guidelines as recurrence therapy for ovarian cancer patients harboring deleterious germline and/or somatic BRCA1/2 mutations (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 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 melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org). 30959471 detail...
RET C630X thyroid 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 V600E/K 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 melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org). 30959471 detail...
NRAS exon 4 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...
ALK rearrange lung non-small cell carcinoma no benefit Durvalumab Guideline Actionable Immune checkpoint inhibitors including Opdivo (nivolumab), Keytruda (pembrolizumab), Tecentriq (atezolizumab), and Imfinzi (durvalumab) are not indicated for use as subsequent therapy in non-small cell lung cancer patients with ALK rearrangement (NCCN.org). detail...
TP53 mutant essential thrombocythemia not applicable N/A Guideline Prognostic TP53 mutations are associated with inferior leukemia-free survival in patients with essential thrombocythemia (NCCN.org). detail...
BRAF wild-type KRAS wild-type NRAS wild-type colon cancer sensitive Fluorouracil + Leucovorin + Oxaliplatin + Panitumumab Guideline Actionable Vectibix (panitumumab), in combination with FOLFOX, is included in guidelines for advanced or metastatic left-sided colon tumors with BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org). detail...
BRCA2 inact mut ovarian cancer sensitive Rucaparib Guideline Actionable Rubraca (rucaparib) is included in the guidelines as recurrence therapy for ovarian cancer patients harboring deleterious germline and/or somatic BRCA1/2 mutations (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...
IDH2 mutant oligodendroglioma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of oligodendrogliomas (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...
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...
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 Q61X myelodysplastic syndrome not applicable N/A Guideline Prognostic NRAS Q61X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
IDH1 mutant astrocytoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of grade II and grade III astrocytomas (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...
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...
ATRX mutant malignant glioma not applicable N/A Guideline Diagnostic ATRX mutations aid in the diagnosis of gliomas (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...
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...
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...
SMARCB1 del epithelioid sarcoma not applicable N/A Guideline Diagnostic SMARCB1 deletion aids the diagnosis of epithelioid sarcoma (NCCN.org). detail...
IDH2 mutant myelofibrosis not applicable N/A Guideline Prognostic IDH2 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org). detail...
IDH2 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...
BRAF wild-type KRAS wild-type NRAS wild-type colon cancer sensitive Cetuximab + Fluorouracil + Irinotecan + Leucovorin Guideline Actionable Erbitux (cetuximab), in combination with FOLFIRI, is included in guidelines for advanced or metastatic left-sided colon tumors with BRAF wild-type, KRAS wild-type, and NRAS wild-type (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 fusion pilocytic astrocytoma not applicable N/A Guideline Prognostic BRAF fusions are associated with indolent disease in patients with pilocytic astrocytoma (NCCN.org). detail...
BRAF wild-type KRAS wild-type NRAS wild-type rectum cancer sensitive Fluorouracil + Leucovorin + Oxaliplatin + Panitumumab Guideline Actionable Vectibix (panitumumab), in combination with FOLFOX, is included in guidelines for advanced or metastatic rectum cancer patients with BRAF wild-type, KRAS wild-type, and NRAS wild-type (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...
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...
BRAF wild-type KRAS wild-type NRAS wild-type colon cancer sensitive Cetuximab + Fluorouracil + Irinotecan + Leucovorin + Oxaliplatin Guideline Actionable Erbitux (cetuximab), in combination with FOLFOXIRI, is included in guidelines for advanced or metastatic left-sided colon tumors with BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org). detail...
BRAF V600E melanoma sensitive Dabrafenib Guideline Actionable Tafinlar (dabrafenib) therapy is included in guidelines for 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...
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...
KRAS mutant lung non-small cell carcinoma no benefit Afatinib Guideline Actionable KRAS mutations are associated with lack of efficacy with EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) in patients with non-small cell lung cancer (NCCN.org). detail...
MET amp lung non-small cell carcinoma sensitive Crizotinib Guideline Actionable Xalkori (crizotinib) is included in guidelines for non-small cell lung cancer patients with high level MET amplification (NCCN.org). detail...
KRAS exon 4 rectum cancer resistant Panitumumab Guideline Actionable Vectibix (panitumumab) is not indicated for use in rectum cancer patients with KRAS exon 4 mutations (NCCN.org). detail...
BRCA1 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline BRCA1/2 mutations are associated with increased risk of developing and early onset of pancreatic cancer (NCCN.org). detail...
NRAS exon 3 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 V600E colon cancer sensitive Irinotecan + Panitumumab + Vemurafenib Guideline Actionable Zelboraf (vemurafenib), Vectibix (panitumumab), and Irinotecan combination therapy is included in guidelines for advanced or metastatic colon cancer patients harboring BRAF V600E (NCCN.org). detail...
BRAF V600E colon cancer sensitive Binimetinib + Encorafenib + Panitumumab Guideline Actionable Braftovi (encorafenib), Mektovi (binimetinib), Vectibix (panitumumab), combination therapy is included in guidelines as a second-line therapy for advanced or metastatic colon cancer patients harboring BRAF V600E (NCCN.org). detail...
TP53 mutant CLL/SLL sensitive Venetoclax Guideline Actionable Venclexta (venetoclax) is indicated in the guidelines for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org). detail...
BRAF V600E colon cancer sensitive Cetuximab + Dabrafenib + Trametinib Guideline Actionable Tafinlar (dabrafenib), Mekinist (trametinib), Erbitux (cetuximab), combination therapy is included in guidelines as a second-line therapy for advanced or metastatic colon cancer patients harboring BRAF V600E (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...
RET Y791X thyroid 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...
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...
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...
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...
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...
BRAF V600K 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...
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 became resistant to Xalkori (crizotinib) (NCCN.org). detail...
TP53 mutant CLL/SLL sensitive Ibrutinib Guideline Actionable Imbruvica (ibrutinib) is indicated in the guidelines for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
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...
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...
KRAS exon 4 colon cancer resistant Cetuximab Guideline Actionable Erbitux (cetuximab) is not indicated for use in colon cancer patients with KRAS exon 4 mutation (NCCN.org). detail...
RET E768X thyroid 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...
KRAS exon 3 colon cancer resistant Cetuximab Guideline Actionable Erbitux (cetuximab) is not indicated for use in colon cancer patients with KRAS exon 3 mutations (NCCN.org). detail...
TP53 mutant CLL/SLL sensitive Idelalisib + Rituximab Guideline Actionable Zydelig (idelalisib) combined with Rituxan (rituximab) is indicated in the guidelines for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (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...
BRAF wild-type KRAS wild-type NRAS wild-type colon cancer sensitive Cetuximab + Fluorouracil + Leucovorin + Oxaliplatin Guideline Actionable Erbitux (cetuximab), in combination with FOLFOX, is included in guidelines for advanced or metastatic left-sided colon tumors with BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org). detail...
BRAF wild-type KRAS wild-type NRAS wild-type rectum cancer sensitive Fluorouracil + Irinotecan + Leucovorin + Panitumumab Guideline Actionable Vectibix (panitumumab), in combination with FOLFIRI, is included in guidelines for advanced or metastatic rectum cancer patients with BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org). detail...
BRAF V600E colon cancer sensitive Cetuximab + Irinotecan + Vemurafenib Guideline Actionable Zelboraf (vemurafenib), Erbitux (cetuximab), and Camptosar (irinotecan) combination therapy is included in guidelines for advanced or metastatic colon cancer patients harboring BRAF V600E (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...
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...
BRAF V600X 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, as adjuvant treatment for patients with Stage III disease, or as systemic therapy for patients with unresectable or metastatic disease (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...
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...
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...
ALK rearrange lung non-small cell carcinoma no benefit Afatinib Guideline Actionable EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org). detail...
BRAF act mut thyroid 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...
IDH1 mutant oligodendroglioma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of oligodendrogliomas (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...
BRAF wild-type KRAS wild-type NRAS wild-type colon cancer sensitive Fluorouracil + Irinotecan + Leucovorin + Panitumumab Guideline Actionable Vectibix (panitumumab), in combination with FOLFIRI, is included in guidelines for advanced or metastatic left-sided colon tumors with BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org). detail...
TP53 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic TP53 mutations except P47S and P72R are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
TP53 mutant 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...
BRAF wild-type KRAS wild-type NRAS wild-type colon cancer sensitive Cetuximab + Irinotecan Guideline Actionable Erbitux (cetuximab), in combination with Camptosar (irinotecan), is included in guidelines as a second-line therapy for advanced or metastatic colon cancer patients BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org). detail...
KRAS exon 2 rectum cancer resistant Panitumumab Guideline Actionable Vectibix (panitumumab) is not indicated for use in rectum cancer patients with KRAS exon 2 mutations (NCCN.org). detail...
RET V804X thyroid 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...
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...
MYD88 L265P Waldenstroem's macroglobulinemia not applicable N/A Guideline Diagnostic MYD88 L265P is diagnostic and aids distinguishing Waldenstroem's macroglobulinemia from non-IgM lymphoplasmacytic lymphoma, B-cell lymphomas, and plasma cell myeloma (NCCN.org). detail...
RET V804M + RET E805K thyroid 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...
BRAF V600E rectum cancer sensitive Cetuximab + Irinotecan + Vemurafenib Guideline Actionable Zelboraf (vemurafenib), Erbitux (cetuximab), and Camptosar (irinotecan) combination therapy is included in guidelines for advanced or metastatic rectum cancer patients harboring BRAF V600E (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, SF3B1, EZH2, or TP53 is associated with inferior overall survival in patients with essential thrombocythemia (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...
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...
NRAS exon 3 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 wild-type KRAS wild-type NRAS wild-type rectum cancer sensitive Cetuximab + Fluorouracil + Leucovorin + Oxaliplatin Guideline Actionable Vectibix (panitumumab), in combination with FOLFOX, is included in guidelines for advanced or metastatic rectum cancer patients with BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org). detail...
RET V804M + RET S904C thyroid 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...
BRAF act mut thyroid 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...
NRAS exon 2 colon cancer resistant Cetuximab Guideline Actionable Erbitux (cetuximab) is not indicated for use in colon cancer patients with NRAS exon 2 mutations (NCCN.org). detail...
BRAF V600E rectum cancer sensitive Cetuximab + Dabrafenib + Trametinib Guideline Actionable Tafinlar (dabrafenib), Mekinist (trametinib), Erbitux (cetuximab), combination therapy is included in guidelines as a second-line therapy for advanced or metastatic rectum cancer patients harboring BRAF V600E (NCCN.org). detail...
BRAF wild-type KRAS wild-type NRAS wild-type rectum cancer sensitive Fluorouracil + Irinotecan + Leucovorin + Oxaliplatin + Panitumumab Guideline Actionable Vectibix (panitumumab), in combination with FOLFOXIRI, is included in guidelines for advanced or metastatic rectum cancer patients with BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org). detail...
BRAF V600K melanoma sensitive Cobimetinib + Vemurafenib Guideline Actionable Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in melanoma guidelines for patients with metastatic or unresectable disease harboring a BRAF V600 activating mutation (NCCN.org). detail...
KRAS exon 3 rectum cancer resistant Cetuximab Guideline Actionable Erbitux (cetuximab) is not indicated for use in rectum cancer patients with KRAS exon 3 mutations (NCCN.org). detail...
MET exon 14 lung non-small cell carcinoma sensitive Crizotinib Guideline Actionable Xalkori (crizotinib) is included in guidelines for non-small cell lung cancer patients with MET exon 14 mutations (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...
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...
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 NRAS wild-type (NCCN.org). detail...
BRAF wild-type KRAS wild-type NRAS wild-type rectum cancer sensitive Cetuximab + Fluorouracil + Irinotecan + Leucovorin + Oxaliplatin Guideline Actionable Erbitux (cetuximab), in combination with FOLFOXIRI, is included in guidelines for advanced or metastatic rectum cancer patients with BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org). detail...
KRAS exon 3 rectum cancer resistant Panitumumab Guideline Actionable Vectibix (panitumumab) is not indicated for use in rectum cancer patients with KRAS exon 3 mutations (NCCN.org). detail...
BRCA1 inact mut ovarian cancer sensitive Olaparib Guideline Actionable Lynparza (olaparib) is included in guidelines as recurrence therapy for ovarian cancer patients harboring deleterious BRCA1/2 germline mutations and as maintenance therapy for ovarian cancer patients harboring BRCA1/2 germline or somatic mutations (NCCN.org). detail...
ERBB2 positive 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-negative, ERBB2 (HER2) receptor-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...
KRAS mutant lung non-small cell carcinoma not applicable N/A Guideline Prognostic KRAS mutations are associated with shorter survival in patients with non-small cell lung carcinoma (NCCN.org). detail...
BRAF wild-type KRAS wild-type NRAS wild-type rectum cancer sensitive Cetuximab + Irinotecan Guideline Actionable Erbitux (cetuximab), in combination with Camptosar (irinotecan), is included in guidelines as a second-line therapy for advanced or metastatic rectum cancer patients BRAF wild-type, KRAS wild-type, and NRAS wild-type (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, SF3B1, EZH2, or TP53 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org). detail...
IDH2 R140Q myelodysplastic syndrome not applicable N/A Guideline Prognostic IDH2 R140Q is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
IDH1 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...
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...
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...
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...
BRCA2 inact mut ovarian cancer sensitive Olaparib Guideline Actionable Lynparza (olaparib) is included in guidelines as recurrence therapy for ovarian cancer patients harboring deleterious BRCA1/2 germline mutations and as maintenance therapy for ovarian cancer patients harboring BRCA1/2 germline or somatic mutations (NCCN.org). detail...
BRAF V600E melanoma sensitive Vemurafenib Guideline Actionable Zelboraf (vemurafenib) therapy is included in guidelines for melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, such as BRAF V600E, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (NCCN.org). detail...
BRAF V600K 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 melanoma harboring BRAF V600E or V600K mutations (PMID: 30959471; NCCN.org). 30959471 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...
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...
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...
RET C620X thyroid 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...
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...
ALK rearrange lung non-small cell carcinoma sensitive Brigatinib Guideline Actionable Alunbrig (brigatinib) is included in the guidelines as first-line and subsequent therapy for patients with advanced or metastatic ALK-rearranged non-small cell lung cancer (NCCN.org). detail...
IDH2 mutant malignant glioma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of gliomas (NCCN.org). detail...
BRAF V600E/K melanoma sensitive Cobimetinib + Vemurafenib Guideline Actionable Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in melanoma guidelines for patients with metastatic or unresectable disease harboring a BRAF V600 activating mutation (NCCN.org). detail...
TP53 loss CLL/SLL sensitive Rituximab + Venetoclax Guideline Actionable Venclexta (venetoclax) combined with Rituxan (rituximab) is indicated in the guidelines for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org). detail...
KRAS exon 3 colon cancer resistant Panitumumab Guideline Actionable Vectibix (panitumumab) is not indicated for use in colon cancer patients with KRAS exon 3 mutations (NCCN.org). detail...
NRAS exon 4 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...
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 wild-type (NCCN.org). detail...
NRAS exon 4 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...
IDH1 mutant glioblastoma multiforme not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of secondary grade IV glioblastomas (NCCN.org). detail...
BRAF wild-type KRAS wild-type NRAS wild-type rectum cancer sensitive Cetuximab + Fluorouracil + Irinotecan + Leucovorin Guideline Actionable Erbitux (cetuximab), in combination with FOLFIRI, is included in guidelines for advanced or metastatic rectum cancer patients with BRAF wild-type, KRAS wild-type, and NRAS wild-type (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...
KRAS mutant lung non-small cell carcinoma no benefit Erlotinib Guideline Actionable KRAS mutations are associated with lack of efficacy with EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) in patients with non-small cell lung cancer (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...
KIT exon 11 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 KIT exon 11 mutations (NCCN.org). detail...
KRAS exon 2 colon cancer resistant Cetuximab Guideline Actionable Erbitux (cetuximab) is not indicated for use in colon cancer patients with KRAS exon 2 mutations (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 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...
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...
BRAF V600E colon cancer sensitive Binimetinib + Cetuximab + Encorafenib Guideline Actionable Braftovi (encorafenib), Mektovi (binimetinib), Erbitux (cetuximab), combination therapy is included in guidelines as a second-line therapy for advanced or metastatic colon cancer patients harboring BRAF V600E (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...
RET S891X thyroid 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...
RET M918X thyroid 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...
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 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...
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...
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...
BRAF fusion pilocytic astrocytoma not applicable N/A Guideline Diagnostic BRAF fusions aid in the diagnosis of pilocytic astrocytoma (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
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...
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...
MYD88 mutant Waldenstroem's macroglobulinemia 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...
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...
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...
BRAF V600X melanoma sensitive Vemurafenib Guideline Actionable Zelboraf (vemurafenib) therapy is included in guidelines for melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (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...
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...
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...
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...
RET C609X thyroid 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...
ERBB2 amp KRAS 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 KRAS wild-type (NCCN.org). detail...
NRAS exon 3 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...
ERBB2 over exp gastric adenocarcinoma sensitive Trastuzumab Guideline Actionable Herceptin (trastuzumab), in combination with fluoropyrimidine and cisplatin, or other chemotherapy agents, but not anthracyclines, is included in guidelines as first-line therapy for Erbb2 (Her2)-overexpressing metastatic gastric adenocarcinoma patients (NCCN.org) detail...
TP53 loss CLL/SLL sensitive Idelalisib + Rituximab Guideline Actionable Zydelig (idelalisib) combined with Rituxan (rituximab) is indicated in the guidelines for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (NCCN.org). detail...
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 wild-type (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, SF3B1, EZH2, or TP53 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org). detail...
KRAS exon 4 colon cancer resistant Panitumumab Guideline Actionable Vectibix (panitumumab) is not indicated for use in colon cancer patients with KRAS exon 4 mutations (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...
TP53 mutant CLL/SLL sensitive Rituximab + Venetoclax Guideline Actionable Venclexta (venetoclax) combined with Rituxan (rituximab) is indicated in the guidelines for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with a TP53 mutation (NCCN.org). detail...
CTNNB1 mutant medulloblastoma not applicable N/A Guideline Prognostic WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org). detail...
BRAF wild-type KRAS wild-type NRAS wild-type rectum cancer sensitive Irinotecan + Panitumumab Guideline Actionable Vectibix (panitumumab), in combination with Camptosar (irinotecan), is included in guidelines as a second-line therapy for advanced or metastatic rectum cancer patients BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org). detail...
ERBB2 over exp esophagus 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 esophageal adenocarcinoma patients (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...
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 resistant Imatinib Guideline Actionable Gleevec (imatinib) is not indicated for use in gastrointestinal stromal tumor (GIST) patients with PDGFRA D842V mutations (NCCN.org). detail...
MLH1 mutant endometrial cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing endometrial cancer (NCCN.org). detail...
BRAF V600E rectum cancer sensitive Dabrafenib + Panitumumab + Trametinib Guideline Actionable Tafinlar (dabrafenib), Mekinist (trametinib), Vectibix (panitumumab), combination therapy is included in guidelines as a second-line therapy for advanced or metastatic rectum cancer patients harboring BRAF V600E (NCCN.org). detail...
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...
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...
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...
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...
BRAF wild-type KRAS wild-type NRAS wild-type colon cancer sensitive Irinotecan + Panitumumab Guideline Actionable Vectibix (panitumumab), in combination with Camptosar (irinotecan), is included in guidelines as a second-line therapy for advanced or metastatic colon cancer patients BRAF wild-type, KRAS wild-type, and NRAS wild-type (NCCN.org). detail...
RET L790X thyroid 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...
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 rectum cancer sensitive Irinotecan + Panitumumab + Vemurafenib Guideline Actionable Zelboraf (vemurafenib), Vectibix (panitumumab), and Irinotecan combination therapy is included in guidelines for advanced or metastatic rectum cancer patients harboring BRAF V600E (NCCN.org). detail...
KRAS mutant lung non-small cell carcinoma no benefit Gefitinib Guideline Actionable KRAS mutations are associated with lack of efficacy with EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) in patients with non-small cell lung cancer (NCCN.org). detail...
ALK rearrange lung non-small cell carcinoma no benefit Osimertinib Guideline Actionable EGFR tyrosine kinase inhibitors including Tarceva (erlotinib), Iressa (gefitinib), Gilotrif (afatinib), and Tagrisso (osimertinib) are not indicated for use as subsequent therapy in ALK rearranged non-small cell lung cancer patients who relapsed on Alecensa (alectinib), Xalkori (crizotinib), or Zykadia (ceritinib) (NCCN.org). detail...
BRCA2 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline BRCA1/2 mutations are associated with increased risk of developing and early onset of pancreatic cancer (NCCN.org). detail...
ERBB2 amp KRAS 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 KRAS wild-type (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...
BRAF V600X melanoma sensitive Dabrafenib Guideline Actionable Tafinlar (dabrafenib) therapy is included in guidelines for melanoma patients with unresectable or metastatic disease harboring BRAF V600 activating mutations, in cases where BRAF/MEK inhibitor combination therapy is contraindicated (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...
KRAS exon 2 colon cancer resistant Panitumumab Guideline Actionable Vectibix (panitumumab) is not indicated for use in colon cancer patients with KRAS exon 2 mutations (NCCN.org). detail...
IDH2 mutant acute myeloid leukemia sensitive Enasidenib Guideline Actionable Idhifa (enasidenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH2 mutation (NCCN.org). detail...
IDH2 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...
KIT exon 9 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 KIT exon 9 mutations (NCCN.org). detail...
KRAS exon 2 rectum cancer resistant Cetuximab Guideline Actionable Erbitux (cetuximab) is not indicated for use in rectum cancer patients with KRAS exon 2 mutations (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 C611X thyroid 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...
ROS1 positive lung non-small cell carcinoma sensitive Lorlatinib Guideline Actionable Lorbrena (lorlatinib) is included in guidelines for ROS1 positive non-small cell lung cancer for patients who have progressed on Xalkori (crizotinib) or Zykadia (ceritinib) (NCCN.org). detail...
BRAF V600E rectum cancer sensitive Binimetinib + Encorafenib + Panitumumab Guideline Actionable Braftovi (encorafenib), Mektovi (binimetinib), Vectibix (panitumumab), combination therapy is included in guidelines as a second-line therapy for advanced or metastatic rectum cancer patients harboring BRAF V600E (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...
BRAF wild-type KRAS wild-type NRAS wild-type colon cancer sensitive Fluorouracil + Irinotecan + Leucovorin + Oxaliplatin + Panitumumab Guideline Actionable Vectibix (panitumumab), in combination with FOLFOXIRI, is included in guidelines for advanced or metastatic left-sided colon tumors with BRAF wild-type, KRAS wild-type, and NRAS wild-type (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...
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...
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...
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...
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...
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...
BRAF V600X melanoma sensitive Cobimetinib + Vemurafenib Guideline Actionable Zelboraf (vemurafenib) and Cotellic (cobimetinib) combination therapy is included in guidelines for patients with metastatic or unresectable melanoma harboring a BRAF V600 activating mutation (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...
RET C618X thyroid 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...
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...
TP53 loss CLL/SLL sensitive Ibrutinib Guideline Actionable Imbruvica (ibrutinib) is indicated in the guidelines for chronic lymphocytic leukemia/small lymphocytic lymphoma patients with TP53 loss (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...