MLH1


Also found in: Wikipedia.

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 ?
This testing includes comprehensive analysis for point mutations, indels, and large deletions/insertions in MLH1, MSH2, EPCAM, MSH6, and PMS2 genes.
In a study on the model of rat xenograft, shown that treatment with low dose decitabine causes the gene MLH1 reactivate (Plumb, 2000).
Moreover, the MLH1 gene has a p53-response element, indicating that it is regulated by p53 (Kaplan and Gunduz 2012).
2012) using a lookup approach in our data set for DAPK1, CDKN2A (P16), GMDS, C10orf32/AS3MT, RASSF1, PPARG, TP53, and MLH1 (see Supplemental Material, Table S3).
Professional standards and guidelines for reporting known variants in established and disease-causing genes such as BRCA1 (breast cancer 1, early onset) or MLH1 (mutL homolog 1) are clear, but how will novel and rare mutations be reported?
Vitamin and antioxidant rich diet increases MLH1 promoter DNA methylation in DMT2 subjects.
Loss of immunoreactivity for MSH2, MLH1, and MSH6 gene products can serve as screening test for potential underlying genetic defect.
Singh's doctoral student, Justin Treas, said the two chemicals stopped the MLH1 gene, which is responsible for sending the signal to start the self-destruct sequence when a cell is damaged.
Objective: Background: Hereditary cancer is an important cause of morbidity and mortality and over the last 20 years, the majority of highly penetrant risk alleles such as BRCA1, BRCA2 in breast cancer and APC, MLH1, MSH2 in colon cancer have been identified.
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.
DNA mismatch repair proteins including MLH1, MSH2, MSH6 and PMS2 were all intact by immunohistochemistry.
The autosomal dominant disorder is caused by a mutation in one of four DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, or PMS2.