MLH1

(redirected from mutL homolog 1, colon cancer, nonpolyposis type 2)

MLH1

A human homologue of the Escherichia coli DNA mismatch repair gene on 3p21.3, which encodes an enzyme that scans newly replicated DNA for errors and repairs mismatched base pairs.

Molecular pathology
A germline mutation of MLH1 occurs in ± 1% of patients with hereditary nonpolyposis colon cancer; defects in MLH1 also cause mismatch repair cancer syndrome, Muir-Torre syndrome and susceptibility to endometrial cancer.
References in periodicals archive ?
MSI tumors may result from inactivating germline mutations in one or more genes, including MutL homolog 1, colon cancer, nonpolyposis type 2 (E.
Among 11 MSI (+) samples there were 6 tumor samples from previously genetically confirmed Lynch syndrome patients [1 with a mutated mutL homolog 1, colon cancer, nonpolyposis type 2 (E.
6) Human genes: MGMT, O-6-methylguanine-DNA methyltransferase; GSTP1, glutathione S-transferase pi 1; APC, adenomatous polyposis coli; SEPT9, septin 9; MLH1, mutL homolog 1, colon cancer, nonpolyposis type 2 (E.
9] Human genes: EGFR, epidermal growth factor receptor [erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian]; BRCA1, breast cancer 1, early onset; BRCA2, breast cancer 2, early onset; MLH1, mutL homolog 1, colon cancer, nonpolyposis type 2 (Escherichia coli); MSH2, mutS homolog 2, colon cancer, nonpolyposis type 1 (E.