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| Therapy Name | N/A |
| Synonyms | |
| Therapy Description | |
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| Drug Name | Trade Name | Synonyms | Drug Classes | Drug Description |
|---|---|---|---|---|
| N/A |
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| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| VHL inact mut | clear cell renal cell carcinoma | not applicable | N/A | Guideline | Risk Factor | Germline inactivating mutations in VHL result in von Hippel-Lindau (VHL) syndrome, which is associated with increased risk of developing clear cell renal cell carcinoma (NCCN.org). | detail... |
| 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... |
| 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 | 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... |
| APC mutant | desmoid tumor | not applicable | N/A | Guideline | Diagnostic | APC mutations aid the diagnosis of desmoid tumor (NCCN.org). | detail... |
| ATM mutant | chronic lymphocytic leukemia/small lymphocytic lymphoma | not applicable | N/A | Guideline | Prognostic | ATM mutations are associated with shorter time to first treatment, progression-free survival, time to next treatment, and overall survival with chemoimmunotherapy compared to wild-type ATM in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (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 fusion | pilocytic astrocytoma | not applicable | N/A | Guideline | Diagnostic | BRAF fusions aid in the diagnosis of pilocytic astrocytoma (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... |
| 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 | 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... |
| 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 | 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... |
| 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... |
| CDKN2A mutant | skin melanoma | not applicable | N/A | Guideline | Risk Factor | Germline CDKN2A mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org). | detail... |
| NRAS mutant | myelofibrosis | not applicable | N/A | Guideline | Prognostic | NRAS mutations are associated with decreased overall survival in patients with primary myelofibrosis (NCCN.org). | detail... |
| VHL inact mut | islet cell tumor | not applicable | N/A | Guideline | Risk Factor | Germline inactivating mutations in VHL result in von Hippel-Lindau (VHL) syndrome, which is associated with increased risk of developing pancreatic neuroendocrine tumors (NCCN.org). | detail... |
| IDH1 mutant | anaplastic astrocytoma | not applicable | N/A | Guideline | Diagnostic | IDH1 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org). | detail... |
| ABL1 rearrange | B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | ABL1 rearrangements are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |
| MLH1 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... |
| 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... |
| FLT3 exon 15 ins | acute myeloid leukemia | not applicable | N/A | Guideline | Prognostic | FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with inferior prognosis in acute myeloid leukemia patients with normal karyotype (NCCN.org). | detail... |
| 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... |
| 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... |
| 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... |
| IDH1 mutant | oligodendroglioma | not applicable | N/A | Guideline | Diagnostic | IDH1 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org). | detail... |
| FLT3 exon 14 ins | acute myeloid leukemia | not applicable | N/A | Guideline | Prognostic | FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with inferior prognosis in acute myeloid leukemia patients with normal karyotype (NCCN.org). | detail... |
| RET V804M RET S904C | medullary thyroid carcinoma | not applicable | N/A | Guideline | Risk Factor | Compound germline RET V804M and S904C mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org). | detail... |
| KIT D816V | systemic mastocytosis | not applicable | N/A | Guideline | Diagnostic | KIT D816V aids in the diagnosis of systemic mastocytosis (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... |
| 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... |
| RAD51D mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51D mutations are associated with increased risk of developing ovarian cancer (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... |
| MLH1 mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (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... |
| RAD51C mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51C mutations are associated with increased risk of developing ovarian cancer (NCCN.org). | detail... |
| RET A883X | medullary thyroid 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... |
| 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... |
| 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... |
| SMARCA4 loss | Advanced Solid Tumor | not applicable | N/A | Preclinical | Emerging | In a preclinical study, siRNA knockdown of BRM in SMARCA4-deficient tumor cells resulted in decreased growth and viability, suggesting that inhibition of BRM may be a promising therapeutic approach for targeting tumors with SMARCA4 loss (PMID: 23872584). | 23872584 |
| 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 exon 15 ins | myelodysplastic syndrome | not applicable | N/A | Guideline | Prognostic | FLT3 internal tandem duplication (FLT3-ITD) mutations are associated with poor prognosis in patients with myelodysplastic syndrome (NCCN.org). | detail... |
| 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... |
| 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 |
| TSC2 inact mut | islet cell tumor | not applicable | N/A | Guideline | Risk Factor | Germline inactivating mutations in TSC2 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing pancreatic neuroendocrine tumors (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 |
| ATM mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline ATM mutations are associated with increased risk of developing breast cancer (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... |
| 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... |
| 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... |
| RET C611X | medullary thyroid 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... |
| ATM mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline ATM mutations are associated with increased risk of developing ovarian cancer (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... |
| SMARCB1 inact mut | rhabdoid cancer | not applicable | N/A | Guideline | Diagnostic | SMARCB1 inactivating mutations aid the diagnosis of extrarenal rhabdoid tumor (NCCN.org). | detail... |
| IDH1 mutant | high grade glioma | not applicable | N/A | Guideline | Diagnostic | IDH1 mutations aid in the diagnosis of gliomas (PMID: 23041832, PMID: 19755387, PMID: 19915484; NCCN.org). | detail... 23041832 19755387 19915484 |
| 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... |
| 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 |
| 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... |
| RET S891X | medullary thyroid 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 L790X | medullary thyroid 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... |
| 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 |
| 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... |
| 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... |
| PTEN mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline PTEN mutations result in Cowden syndrome, which is associated with increased risk of developing breast cancer (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... |
| 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... |
| 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 |
| JAK2 mutant | essential thrombocythemia | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of essential thrombocythemia (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... |
| 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 |
| 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... |
| 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... |
| RET C620X | medullary thyroid carcinoma | not applicable | N/A | Guideline | Risk Factor | Germline RET C620X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org). | detail... |
| TP53 mutant | chronic lymphocytic leukemia/small lymphocytic lymphoma | not applicable | N/A | Guideline | Prognostic | TP53 mutations are associated with a poor prognosis in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (NCCN.org). | detail... |
| MSH6 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... |
| RET C609X | medullary thyroid 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... |
| 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 |
| CTNNB1 mutant | desmoid tumor | not applicable | N/A | Guideline | Diagnostic | CTNNB1 mutations aid the diagnosis of desmoid tumor (NCCN.org). | detail... |
| TSC2 inact mut | clear cell renal cell carcinoma | not applicable | N/A | Guideline | Risk Factor | Germline inactivating mutations in TSC2 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing clear cell renal cell carcinoma (NCCN.org). | detail... |
| TET2 mutant | myelofibrosis | not applicable | N/A | Guideline | Diagnostic | TET2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org). | detail... |
| JAK2 mutant | childhood B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |
| JAK2 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... |
| 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... |
| 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... |
| RET V804M RET Y806C | medullary thyroid carcinoma | not applicable | N/A | Guideline | Risk Factor | Compound germline RET V804M and Y806C mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org). | detail... |
| 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... |
| 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... |
| TP53 mutant | B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | TP53 mutations are associated with poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |
| 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... |
| TP53 loss TP53 mut | chronic lymphocytic leukemia/small lymphocytic lymphoma | not applicable | N/A | Guideline | Prognostic | The presence of a TP53 mutation combined with TP53 loss is associated with shorter progression-free survival and overall survival with chemoimmunotherapy, fixed duration venetoclax-based regimens, and covalent BTK inhibitors in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (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 C630X | medullary thyroid 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... |
| RET E768X | medullary thyroid 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... |
| TP53 mutant | mantle cell lymphoma | not applicable | N/A | Guideline | Prognostic | TP53 mutations are associated with poor prognosis in patients with mantle cell lymphoma who are treated with conventional therapy, including transplant (NCCN.org). | detail... |
| IDH1 R132H | high grade glioma | not applicable | N/A | Guideline | Diagnostic | IDH1 R132H is diagnostic and aids in the diagnosis of gliomas (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 |
| 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... |
| 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... |
| MSH6 mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (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... |
| 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... |
| TP53 mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline TP53 mutations result in Li-Fraumeni syndrome, which is associated with increased risk of developing breast cancer (NCCN.org). | detail... |
| MSH6 mutant | rectum cancer | not applicable | N/A | Guideline | Risk Factor | Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org). | detail... |
| TSC1 inact mut | islet cell tumor | not applicable | N/A | Guideline | Risk Factor | Germline inactivating mutations in TSC1 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing pancreatic neuroendocrine tumors (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... |
| 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 |
| 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... |
| RAD51C mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51C mutations are associated with increased risk of developing breast cancer (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... |
| 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... |
| 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... |
| RET V804M RET E805K | medullary thyroid carcinoma | not applicable | N/A | Guideline | Risk Factor | Compound germline RET V804M and E805K mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org). | detail... |
| IDH2 mutant | oligodendroglioma | not applicable | N/A | Guideline | Diagnostic | IDH2 mutations aid in the diagnosis of oligodendrogliomas (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 |
| JAK2 mutant | myelofibrosis | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of primary myelofibrosis (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... |
| 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 |
| JAK2 exon12 | polycythemia vera | not applicable | N/A | Guideline | Diagnostic | JAK2 exon 12 mutations aid 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... |
| 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... |
| 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 |
| RET Y791X | medullary thyroid 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... |
| 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... |
| 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... |
| 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 |
| RET M918X | medullary thyroid 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... |
| RAD51D mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51D mutations are associated with increased risk of developing breast cancer (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... |
| 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 |
| 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... |
| 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... |
| DNMT3A mutant | myelofibrosis | not applicable | N/A | Guideline | Prognostic | DNMT3A mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org). | detail... |
| NRAS Q61X | myelodysplastic syndrome | not applicable | N/A | Guideline | Prognostic | NRAS Q61X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). | detail... |
| APC mutant | 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... |
| 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... |
| RET V804X | medullary thyroid 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... |
| SMARCB1 del | epithelioid sarcoma | not applicable | N/A | Guideline | Diagnostic | SMARCB1 deletion aids the diagnosis of epithelioid sarcoma (NCCN.org). | detail... |
| IDH2 wild-type | IDH-wildtype glioblastoma | not applicable | N/A | Guideline | Diagnostic | Wild-type IDH2 aids in the diagnosis of glioblastoma (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... |
| RET C618X | medullary thyroid 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... |
| 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 | 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... |
| MSH6 mutant | pancreatic cancer | not applicable | N/A | Guideline | Risk Factor | Germline mutations in MSH6 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). | detail... |
| MLH1 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... |
| CHEK2 mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline CHEK2 mutations are associated with increased risk of developing breast cancer (NCCN.org). | detail... |
| ATM mutant | pancreatic cancer | not applicable | N/A | Guideline | Risk Factor | Germline ATM mutations are associated with increased risk of developing pancreatic cancer (NCCN.org). | detail... |
| RET C634X | medullary thyroid 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... |
| 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 | B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Diagnostic | KMT2A rearrangements (t(v;11q23.3)) aid in the diagnosis of B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |
| IDH1 wild-type | IDH-wildtype glioblastoma | not applicable | N/A | Guideline | Diagnostic | Wild-type IDH1 aids in the diagnosis of glioblastoma (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... |
| 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 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... |
| 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 |
| TSC1 inact mut | clear cell renal cell carcinoma | not applicable | N/A | Guideline | Risk Factor | Germline inactivating mutations in TSC1 result in tuberous sclerosis complex (TSC), which is associated with increased risk of developing clear cell renal cell carcinoma (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 |
| 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... |
| IDH2 mutant | angioimmunoblastic T-cell lymphoma | not applicable | N/A | Guideline | Diagnostic | IDH2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org). | detail... |
| BRAF 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... |
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| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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CKB BOOST