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Therapy Name N/A
Synonyms
Therapy Description

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Drug Name Trade Name Synonyms Drug Classes Drug Description
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
VHL mutant islet cell tumor not applicable N/A Guideline Risk Factor Germline mutations in VHL result in von Hippel Lindau syndrome, which is associated with increased risk of developing pancreatic neuroendocrine tumors (NCCN.org). detail...
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...
PTEN mutant skin melanoma not applicable N/A Guideline Risk Factor Germline PTEN mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org). detail...
ATRX mutant high grade glioma not applicable N/A Guideline Diagnostic ATRX mutations aid in the diagnosis of gliomas (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...
IDH2 mutant essential thrombocythemia not applicable N/A Guideline Prognostic The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org). detail...
IDH2 mutant high grade glioma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of gliomas (NCCN.org). detail...
IDH2 mutant high grade glioma not applicable N/A Guideline Prognostic IDH2 mutations are associated with a favorable prognosis in patients with glioma, and are associated with a survival benefit for patients treated with radiation or alkylator therapy (NCCN.org). detail...
JAK2 rearrange childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
TP53 mutant essential thrombocythemia not applicable N/A Guideline Prognostic The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org). detail...
TP53 mutant essential thrombocythemia not applicable N/A Guideline Prognostic TP53 mutations are associated with inferior leukemia-free survival in patients with essential thrombocythemia (NCCN.org). detail...
TP53 mutant 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...
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...
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...
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...
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...
KMT2A rearrange childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic KMT2A rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
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...
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...
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...
IDH2 mutant malignant astrocytoma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of grade II and grade III astrocytomas (NCCN.org). detail...
PALB2 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased pancreatic cancer susceptibility (NCCN.org). detail...
VHL mutant clear cell renal cell carcinoma not applicable N/A Guideline Risk Factor Germline mutations in VHL result in von Hippel Lindau syndrome, which is associated with increased risk of developing clear cell renal cancer (NCCN.org). detail...
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...
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...
BRAF V600E colon adenocarcinoma not applicable N/A Phase III Emerging In a post-hoc analysis of a Phase III trial, BRAF V600E mutations in colon adenocarcinoma patients with microsatellite stable tumors were associated with a shorter disease-free survival and overall survival compared to those patients with microsatellite instability tumors, suggesting that BRAF V600E may serve as a future prognostic biomarker in this patient population (PMID: 26768652). 26768652
NRAS G12X myelodysplastic syndrome not applicable N/A Guideline Prognostic NRAS G12X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
RET 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...
IDH1 mutant oligodendroglioma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of oligodendrogliomas (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...
CDKN2A hypermethylation colorectal cancer not applicable N/A Clinical Study - Meta-analysis Prognostic In a meta-analysis, CDKN2A promoter hypermethylation was associated with poor overall survival (HR=1.65, 95% CI 1.29-2.11), lymphovascular invasion (OR=1.68, 95% CI 1.15-2.47), and lymph node metastasis (OR=1.68, 95% CI 1.09-2.59) in colorectal cancer patients, and correlated significantly with poor overall survival in patients from Europe (HR=1.49, 95% CI 1.28-1.74) and Asia (HR=3.30, 95% CI 1.68-6.46) (PMID: 23703248). 23703248
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...
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...
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...
IDH2 wild-type high grade glioma not applicable N/A Guideline Risk Factor IDH2 wild-type is associated with increased risk of aggressive disease in patients with grade II or III infiltrative gliomas (NCCN.org). detail...
NRAS mutant myelofibrosis not applicable N/A Guideline Prognostic NRAS mutations are associated with decreased overall survival in patients with primary myelofibrosis (NCCN.org). detail...
JAK2 exon12 polycythemia vera not applicable N/A Guideline Diagnostic JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (NCCN.org). detail...
FGFR1 rearrange childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic FGFR1 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
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...
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...
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...
CHEK2 mutant prostate cancer not applicable N/A Guideline Risk Factor Germline CHEK2 mutations are associated with increased risk of developing prostate cancer (NCCN.org). detail...
JAK2 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
ABL1 rearrange childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic ABL1 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
MLH1 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
KIT D816V systemic mastocytosis not applicable N/A Guideline Prognostic KIT D816V is associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org). detail...
KIT D816V systemic mastocytosis not applicable N/A Guideline Diagnostic KIT D816V aids in the diagnosis of systemic mastocytosis (NCCN.org). detail...
JAK2 V617F polycythemia vera not applicable N/A Guideline Diagnostic JAK2 V617F aids in the diagnosis of polycythemia vera (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...
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...
FLT3 rearrange B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic FLT3 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
PALB2 mutant uveal melanoma not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with familial uveal melanoma and increased risk of developing uveal melanoma (NCCN.org). detail...
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...
APC mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Familial adenomatous polyposis results from germline mutations in the APC gene, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
MSH6 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 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...
ATRX loss IDH1 mut malignant astrocytoma not applicable N/A Guideline Diagnostic ATRX deficiency in combination with IDH mutation aids in the diagnosis of astrocytoma (NCCN.org). detail...
IDH2 mutant glioblastoma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of secondary grade IV glioblastomas (NCCN.org). detail...
TP53 loss chronic lymphocytic leukemia/small lymphocytic lymphoma not applicable N/A Guideline Prognostic Loss of TP53 is associated with a poor prognosis in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org). detail...
TP53 mutant chronic lymphocytic leukemia/small lymphocytic lymphoma not applicable N/A Guideline Prognostic TP53 mutations are associated with a poor prognosis in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org). detail...
ATRX loss IDH2 mut malignant astrocytoma not applicable N/A Guideline Diagnostic ATRX deficiency in combination with IDH mutation aids in the diagnosis of astrocytoma (NCCN.org). detail...
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...
JAK2 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
RET 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...
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...
ABL1 rearrange B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic ABL1 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
MSH6 loss colon carcinoma not applicable N/A Preclinical Emerging Preclinical shRNA mediated-inhibition of PTEN-induced putative kinase 1 (PINK1) in colon carcinoma cells with MSH6 loss resulted in synthetic lethality, suggesting PINK1 may be a promising therapeutic target for MSH6 deficient cancer cells (PMID: 21242281). 21242281
IDH2 mutant myelofibrosis not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org). detail...
IDH2 mutant myelofibrosis not applicable N/A Guideline Prognostic IDH2 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org). detail...
JAK2 mutant essential thrombocythemia not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org). detail...
KMT2A rearrange B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic KMT2A rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
KMT2A rearrange acute myeloid leukemia not applicable N/A Guideline Prognostic KMT2A rearrangements (t(v;11q23.3)) are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
KMT2A rearrange acute myeloid leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, KMT2A rearrangements, specifically partial tandem duplications, were associated with a poor overall survival in acute myeloid leukemia patients (PMID: 24487413, PMID: 22915647, PMID: 22417203, PMID: 21881046). 21881046 24487413 22417203 22915647
IDH1 wild-type high grade glioma not applicable N/A Guideline Risk Factor IDH1 wild-type is associated with increased risk of aggressive disease in patients with grade II or III infiltrative gliomas (NCCN.org). detail...
TP53 mutant nephroblastoma not applicable N/A Guideline Risk Factor Germline mutations in TP53 result in Li-Fraumeni syndrome, which is associated with increased risk of developing Wilms tumor (nephroblastoma) (NCCN.org). detail...
BRAF fusion pilocytic astrocytoma not applicable N/A Guideline Diagnostic BRAF fusions aid in the diagnosis of pilocytic astrocytoma (NCCN.org). detail...
BRAF fusion pilocytic astrocytoma not applicable N/A Guideline Prognostic BRAF fusions are associated with indolent disease in patients with pilocytic astrocytoma (NCCN.org). detail...
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...
TP53 mutant medulloblastoma not applicable N/A Guideline Prognostic TP53 mutations are associated with aggressive disease in patients with SHH-activated medulloblastoma (NCCN.org). detail...
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...
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...
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...
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...
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...
JAK3 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK3 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
IDH1 mutant glioblastoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of secondary grade IV glioblastomas (NCCN.org). detail...
IDH1 mutant glioblastoma not applicable N/A Clinical Study Prognostic In multiple clinical studies, including two meta-analyses, IDH1 mutations were associated with a greater overall survival and progression-free survival in patients with glioblastoma (PMID: 23904262, PMID: 26945349, PMID: 20560678). 20560678 23904262 26945349
ALK rearrange anaplastic large cell lymphoma not applicable N/A Guideline Diagnostic ALK rearrangement aids in the diagnosis of anaplastic large cell lymphoma (NCCN.org). detail...
ALK rearrange anaplastic large cell lymphoma not applicable N/A Guideline Prognostic The presence of ALK rearrangement is associated with a favorable prognosis in patients with anaplastic large cell lymphoma (NCCN.org). detail...
FLT3 rearrange childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic FLT3 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
APC mutant desmoid tumor not applicable N/A Guideline Diagnostic APC mutations aid the diagnosis of desmoid tumor (NCCN.org). detail...
IDH2 mutant oligodendroglioma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of oligodendrogliomas (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...
CTNNB1 mutant desmoid tumor not applicable N/A Guideline Diagnostic CTNNB1 mutations aid the diagnosis of desmoid tumor (NCCN.org). detail...
KIT D816X systemic mastocytosis not applicable N/A Guideline Diagnostic Activating mutations at codon 816 of KIT aid in the diagnosis of systemic mastocytosis (NCCN.org). detail...
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...
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...
JAK3 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK3 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
MSH6 mutant colorectal cancer not applicable N/A Clinical Study Diagnostic Germline mutations in MSH6 are associated with microsatellite instability in colorectal cancer (CRC), and are diagnostic for Lynch syndrome (hereditary nonpolyposis colorectal cancer) in colorectal cancer patients (PMID: 26582061; PMID: 19125127). 26582061 19125127
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...
IDH1 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In two meta-analyses, IDH1 mutations were associated with a worse overall survival in patients with acute myeloid leukemia (PMID: 22616558, PMID: 23226625). 22616558 23226625
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 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...
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...
MLH1 mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
MSH6 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...
TP53 mutant acute myeloid leukemia not applicable N/A Guideline Prognostic TP53 mutations are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
DNMT3A mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in DNMT3A were associated with poor prognosis and shorter overall survival in patients with acute myeloid leukemia (PMID: 22490330, PMID: 21881046, PMID: 21670448). 22490330 21881046 21670448
RAD51B wild-type breast cancer not applicable N/A Preclinical Emerging SiRNA inhibition of RAD51B in breast cancer cells resulted in increased sensitivity to DNA damaging agents in culture, suggesting that RAD51B could be a promising therapeutic target for sensitization to chemotherapeutic agents in combination therapies (PMID: 25368520). 25368520
IDH1 mutant high grade glioma not applicable N/A Clinical Study Prognostic In multiple clinical studies, including two meta-analyses, IDH1 mutations were associated with improved overall survival and progression free survival in patients with gliomas (PMID: 23817809, PMID: 26220714, PMID: 23894344). 23894344 23817809 26220714
IDH1 mutant high grade glioma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of gliomas (PMID: 23041832, PMID: 19755387, PMID: 19915484; NCCN.org). detail... 23041832 19755387 19915484
IDH1 mutant high grade glioma not applicable N/A Guideline Prognostic IDH1 mutations are associated with a favorable prognosis in patients with glioma, and are associated with a survival benefit for patients treated with radiation or alkylator therapy (NCCN.org). detail...
MSH6 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...
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...
JAK3 rearrange B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK3 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
CBL mutant systemic mastocytosis not applicable N/A Guideline Prognostic CBL mutations are associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org). detail...
IDH2 mutant anaplastic astrocytoma not applicable N/A Guideline Diagnostic IDH2 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org). detail...
FGFR1 rearrange B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic FGFR1 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
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...
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
IDH1 mutant anaplastic astrocytoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org). detail...
IDH1 R132H high grade glioma not applicable N/A Guideline Diagnostic IDH1 R132H is diagnostic and aids in the diagnosis of gliomas (NCCN.org). detail...
CDKN2A mutant skin melanoma not applicable N/A Guideline Risk Factor Germline CDKN2A mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org). detail...
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...
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...
KIT mutant gastrointestinal stromal tumor not applicable N/A Clinical Study Diagnostic KIT mutations are used in the diagnosis of gastrointestinal stromal tumors (PMID: 25193432, PMID: 26276366, PMID: 25729899). 25193432 26276366 25729899
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...
TET2 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, including a meta-analysis, TET2 mutations were associated with shorter overall survival in patients with acute myeloid leukemia (PMID: 24524305, PMID: 25412851, PMID: 24994606). 24524305 25412851 24994606
IDH1 mutant myelofibrosis not applicable N/A Guideline Prognostic IDH1 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org). detail...
IDH1 mutant myelofibrosis not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org). detail...
JAK2 mutant myelofibrosis not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of primary myelofibrosis (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...
MLH1 inact mut colorectal cancer not applicable N/A Preclinical Emerging In a preclinical study, MLH1 inactivation through hypermethylation was associated with high microsatellite instability (MSI-H) colorectal carcinoma by whole genome sequencing of tumor samples (PMID: 22810696), suggesting it may be a potential biomarker. 22810696
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...
PALB2 mutant prostate cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased risk of developing prostate cancer (NCCN.org). detail...
IDH1 mutant malignant astrocytoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of grade II and grade III astrocytomas (NCCN.org). detail...
JAK3 rearrange childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK3 rearrangements are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
CBL mutant myelodysplastic/myeloproliferative neoplasm not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in CBL were associated with adverse prognosis in patients with chronic myelomonocytic leukemia (PMID: 26230957, PMID: 23690417, PMID: 19901108). 26230957 19901108 23690417
TET2 mutant myelofibrosis not applicable N/A Guideline Diagnostic TET2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org). detail...
CSF3R mutant bone marrow cancer not applicable N/A Clinical Study Emerging In clinical studies, high frequency of CSF3R mutations was identified in patients with chronic neutrophilic leukemia (PMID: 23656643, PMID: 24081659), suggesting that this may serve as a future diagnostic biomarker (PMID: 24441292). 24081659 23656643 24441292
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...
JAK2 rearrange B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries


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