Ready, get set, go: Fast preoperative genetic diagnosis is the present future in Lynch syndrome surgical strategy

Lynch syndrome (LS) is an autosomal dominant hereditary cancer predisposition syndrome caused by pathogenic germline variants in DNA mismatch repair genes (MMR) MLH1, MSH2, MSH6 and PMS2. LS accounts for 3 –5% of all colorectal cancers (CRC). LS associated CRC generally has microsatellite instability and lacks for MMR protein expression. The risk of CRC in LS patients is between 10 and 82% depending on the involved MMR gene. LS patients are at high risk to develop synchronous/metachronous cancer bot h colonic and extracolonic (e.g.

Source: Digestive and Liver Disease - October 29, 2019 Category: Gastroenterology Authors: Guglielmo Niccol ò Piozzi, Maria Teresa Ricci, Stefano Signoroni, Marco Vitellaro Tags: Correspondence Source Type: research