Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

ABSTRACT:

Background

Identifying genetic disease-susceptible individuals through population screening is considered as a promising approach for disease prevention. DNA mismatch repair (MMR) genes including MLH1, MSH2, MSH6 and PMS2 play essential roles in maintaining microsatellite stability through DNA mismatch repair, and pathogenic variation in MMR genes causes microsatellite instability and is the genetic predisposition for cancer as represented by the Lynch syndrome. While the prevalence and spectrum of MMR variation has been extensively studied in cancer, it remains largely elusive in the general population. Lack of the knowledge prevents effective prevention for MMR variation-caused cancer. In the current study, we addressed the issue by using the Chinese p

SUBMITTER: Zhang L 

PROVIDER: S-EPMC9252855 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature