Cancers, Vol. 15, Pages 5061: Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort

Cancers, Vol. 15, Pages 5061: Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort Cancers doi: 10.3390/cancers15205061 Authors: Antonino Pantaleo Giovanna Forte Filomena Cariola Anna Maria Valentini Candida Fasano Paola Sanese Valentina Grossi Antonia Lucia Buonadonna Katia De Marco Martina Lepore Signorile Anna Filomena Guglielmi Andrea Manghisi Gianluigi Gigante Raffaele Armentano Vittoria Disciglio Cristiano Simone 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 BRAFV600. Here, we sought to clinically and molecularly characterize patients with these features. From 2017 to 2023, 841 CRC patients were evaluated for MSI and BRAFV600E mutation status, 100 of which showed MSI-H. Of these, 70 were wild-type for BRAFV600. Among these 70 patients, 30 were genetically tested for germline variants in hereditary cancer predisposition syndrome genes. This analysis showed that 19 of these 30 patients (63.3%) harbored a germline pathogenic or likely pathogenic variant in MMR genes, 2 (6.7%) harbored a variant of unk...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research