Lynch syndrome

Description

An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.; The term "Lynch syndrome" is often used to refer to “hereditary non-polyposis colorectal cancer" (HNPCC). Following the representation in NCIT and Orphanet, HNPCC and "Lynch syndrome" are kept as 2 separate entities in Mondo. Please see also MONDO:0018630-“hereditary non-polyposis colorectal cancer". This term, 'Lynch syndrome' (MONDO:0005835), refers to the “classical Lynch syndrome”, which is caused by a variation in one of the mismatch repair genes MSH2, MLH1, MSH6, PMS2.