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Gene | MLH1 |
Variant | H718Y |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | MLH1 H718Y lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). H718Y results in Mlh1 and Pms2 expression comparable to wild-type Mlh1 in culture (PMID: 23403630, PMID: 36054288), stable mismatch repair activity in two of three yeast assays (PMID: 17510385), and in an in vitro assay (PMID: 17510385), and in culture (PMID: 36054288), low mutation rate in one of two yeast assays (PMID: 17210669), and retains binding to Pms2 and Exo1 in a yeast-two-hybrid assay (PMID: 12810663). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 H718Y |
Transcript | NM_000249.4 |
gDNA | chr3:g.37050534C>T |
cDNA | c.2152C>T |
Protein | p.H718Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37050534C>T | c.2152C>T | p.H718Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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... |
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... |
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... |
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... |
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... |
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... |
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... |