mismatch repair gene

mismatch repair gene

Any of a number of genes (e.g., MLH1, PMS1, MSH2, etc.) which encode an enzyme that scans newly replicated DNA for errors and repairs mismatched bases in the DNA. Defects in mismatch repair genes result in replication errors and genetic instability. Germ-line mutations are associated with hereditary cancer syndromes—e.g., hereditary nonpolyposis colorectal cancer.
References in periodicals archive ?
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants lodged on the InSiGHT locus-specific database.
Walsh et al., "Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing," Journal of Clinical Oncology, vol.
Hofstra, "Review: clinical aspects of hereditary DNA Mismatch repair gene mutations," DNA Repair, vol.
Bandipalliam, "Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations," Familial Cancer, vol.
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability.
Carrara et al., "Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer," Familial Cancer, vol.
Morrison et al., "Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer," Nature, vol.
Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation.
Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients.
The loss of mismatch repair gene proteins in colorectal carcinoma is one such example.
Analysis of mismatch repair gene mutations in Tureish HNPCC patients.
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.