Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families.

ABSTRACT:

Background

Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This condition is characterized by germline variants in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, and PMS2. In this study, we analyzed the molecular defects and clinical manifestations of two families affected with CRC and proposed appropriate individual preventive strategies for all carriers of the variant.

Methods

We recruited two families diagnosed with CRC and combined their family history and immunohistochemical results to analyze the variants of probands and those of other family members by using whole exome sequencing. Subsequently, gene variants in each family were screened by comparing them with the variants available in the public database. Sanger seque

SUBMITTER: Li J 

PROVIDER: S-EPMC10821544 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature