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Gene | MSH6 |
Variant | inact mut |
Impact List | unknown |
Protein Effect | loss of function |
Gene Variant Descriptions | MSH6 inact mut indicates that this variant results in a loss of function of the Msh6 protein. However, the specific amino acid change has not been identified. |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 inact mut |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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... |
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... |
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... |
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 | 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... |
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 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 | 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... |