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Gene Symbol MLH1
Synonyms COCA2 | FCC2 | hMLH1 | HNPCC | HNPCC2 | LYNCH2 | MLH-1 | MMRCS1
Gene Description MLH1, mutL homolog 1, is a tumor suppressor (PMID: 30562755) that dimerizes with Pms2 to form a component of the DNA mismatch repair (MMR) system (PMID: 16873062), and is associated with microsatellite instability (MSI) (PMID: 30121009) and genomic stability (PMID: 31747945). MLH1 promoter hypermethylation, resulting in Mlh1 deficiency, is frequently associated with sporadic colorectal, gastric, and esophageal cancers (PMID: 23555617, PMID: 21988782, PMID: 28224663, PMID: 28454461), and germline MLH1 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (PMID: 15528792).
ACMG Incidental List v3.0:
Yes, Lynch syndrome (PMID: 34012068)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
E178fs frameshift loss of function - predicted MLH1 E178fs results in a change in the amino acid sequence of the Mlh1 protein beginning at aa 178 of 756, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), E178fs is predicted to lead to a loss of Mlh1 protein function.
inact mut unknown loss of function MLH1 inact mut indicates that this variant results in a loss of function of the Mlh1 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown MLH1 mutant indicates an unspecified mutation in the MLH1 gene.