Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort.

ABSTRACT: Lynch syndrome (LS) is an inherited cancer susceptibility syndrome caused by germline mutations in a DNA mismatch repair (MMR) gene or in the EPCAM gene. LS is associated with an increased lifetime risk of colorectal cancer (CRC) and other malignancies. The screening algorithm for LS patient selection is based on the identification of CRC specimens that have MMR loss/high microsatellite instability (MSI-H) and are wild-type for BRAF^V600. Here, we sought to clinically and molecularly characterize patients with these features. From 2017 to 2023, 841 CRC patients were evaluated for MSI and BRAF^V600E mutation status, 100 of which showed MSI-H. Of these, 70 were wild-type for BRAF^V600. Among these 70 patients, 30 were genetically test

SUBMITTER: Pantaleo A 

PROVIDER: S-EPMC10605602 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature