MLH1

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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 ?
20) Most families with HNPCC carry the germline mutation of one of four genes--hMSH2, hMLH1, hPMS1, hPMS2.
The gene described is one of three newly discovered human genes, hMLH1, hPMS1 and hPMS2, identified as part of a research effort by HGS, The Institute for Genomic Research and Johns Hopkins Oncology Center, the University of Helsinki and Creighton University that cause hereditary nonpolyposis colon cancer (HNPCC).
Prognostic value of hMLH1 methylation and microsatellite instability in pancreatic endocrine neoplasms [discussion in Surgery.
As per the revised Bethesda guidelines for HNPCC mutation screening (31), microsatellite instability is a useful tool to further select the patients for hMLH1 and hMSH2 mutation screening.
Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability.
MIN also increased with longer exposure time (21) and was strongly correlated with decreased expression of hMLH1 (22).
The profile of hMLH1 methylation and microsatellite instability in colorectal and non-small cell lung cancer.
Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma.
Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer.
Methods: Promoter hypermethylation analysis of five tumour associated genes namely p16, p15, MGMT, hMLH1 and E-cadherin were done for 41 MDS patient samples with its various subtype.
On the other hand, at low levels of exposure, boys seemed protected by the variant hMLH1 (ex 8).