Impact Of Different Selection Approaches For Identifying Lynch Syndrome-Related Colorectal Cancer Patients

Lynch syndrome (LS) is the most prevalent inherited cause of genetic predisposition to colorectal cancer (CRC) by accounting for approximately 1-3% of all newly diagnosed CRC cases. LS includes, beyond CRC, a broad spectrum of associated cancers, with different genetic etiology and risk, including endometrial, gastric, small bowel, ovarian, pancreas, hepato-biliary tract, urinary tract, and brain tumors. Individuals affected by LS show an increased lifetime cumulative risk of CRC (25-80%). The LS is caused by germline pathogenic variants (PVs) in one of four MMR genes, such as MLH1, MSH2, MSH6, PMS2, or in EPCAM gene.