Authors: Jennifer M Johnson Jason Chen Siraj M Ali Inderpreet K Dardi Madalina Tuluc David Cognetti Barbara Campling Ashwin R Sama
Publish Date: 2016/10/06
Volume: 49, Issue: 2, Pages: 203-206
Abstract
Lynch syndrome is an autosomal dominant cancer susceptibility disorder caused by either a germ line mutation in a DNA mismatch repair gene MLH1 MSH2 MSH6 or PMS2 or deletion of the last few exons of the EPCAM gene leading to epigenetic silencing of MSH2 1 The deficient mismatch repair leads to a hyper mutated state as exemplified by microsatellite instability and eventual carcinogenesis Clinically the hallmark of Lynch syndrome is an increased predisposition to the development of colorectal cancers at a significantly younger age relative to their sporadic counterparts metachronous and synchronous colonic primaries 1 An increased frequency of neoplasia is also observed in the endometrium ovary upper urinary tract stomach hepatobiliary pancreas small intestine brain/CNS sebaceous glands and keratoacanthomas 1 Notably MSH6mutations are associated with a higher proportion of extracolonic neoplasms a later age of onset of these cancers and a
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