Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.

ABSTRACT: Lynch syndrome is characterised by heterozygous germline mutations in the MisMatch Repair (MMR) genes and an increased risk of cancer. Previous population estimates based on cohorts with colorectal cancer suggest one in 300 people have a disease-causing variant. This study calculated the population frequency of Lynch syndrome from Predicted pathogenic variants in MMR genes in the general population. MLH1, MSH2, MSH6 and PMS2 variants were downloaded from gnomAD v.2.1, and annotated in ANNOVAR. Our population frequencies of heterozygous Predicted pathogenic variants were calculated from the sum of structural, null, rare computationally-damaging missense changes, and founder variants. Population frequencies were also derived from the proposed ClinGen variant specifications, and from pathogen

SUBMITTER: Guan Y 

PROVIDER: S-EPMC12494755 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature