Lynch syndrome – the gastroenterologist’s perspective

Prof. dr. Monique van Leerdam is a gastroenterologist and clinical epidemiologist working both at the Netherlands Cancer Institute in Amsterdam and the Leiden University Medical Center in Leiden, the Netherlands. She is also the medical director of the Dutch foundation for the Detection of Hereditary Cancer syndromes. She is involved in the management of individuals with a pathogenic variant in several gastrointestinal cancer syndromes including Lynch syndrome. Her research focus is on early detection and prevention of gastrointestinal cancers.

Lynch syndrome is caused by a pathogenic variant in one of the four mismatch repair genes MLH1, MSH2 (including EPCAM), MSH6 and PMS2. Carriers of a pathogenic variant do have a high cumulative lifetime risk of developing different cancers, but especially colorectal cancer. For this reason, we do advise regular colonoscopy surveillance. However, even under surveillance, post-colonoscopy cancers do occur. In this webinar I will present the current guidelines on lynch syndrome surveillance and discuss pitfalls of colonoscopy surveillance.