PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps.

ABSTRACT: Background  Lynch syndrome (LS) is an autosomal dominant condition due to the germline mutation in the mismatch repair (MMR) genes including MLH1 , MSH2 , MSH6, and PMS2 (post-meiotic segregation increased 2). The MMR mutation carriers have high risk for cancers. Pathogenic PMS2 variants are rarely reported in LS-associated colorectal cancer (CRC) with colorectal polyps. The aim of the study was to investigate the genetic etiology of CRC in an individual with CRC with multiple colorectal polyps and a family history of cancers. Patients and Methods  The index patient was an African male affected by CRC with multiple colorectal polyps. The clinical diagnostic for LS was based on the Amsterdam II criteria and pedigree. Next-generation sequencin

SUBMITTER: Poaty H 

PROVIDER: S-EPMC9833889 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature