Approach to Lynch Syndrome for the Gastroenterologist

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• 作者：Quan M. Bui ; David Lin ; Wendy Ho
• 关键词：Lynch syndrome ; Mismatch repair ; Microsatellite instability ; Colorectal cancer
• 刊名：Digestive Diseases and Sciences
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：62
• 期：2
• 页码：299-304
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Gastroenterology; Hepatology; Oncology; Transplant Surgery; Biochemistry, general;
• 出版者：Springer US
• ISSN：1573-2568
• 卷排序：62

文摘

Lynch syndrome is an autosomal-dominant hereditary cancer syndrome. Mutations in mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2, are implicated in the pathogenesis of the syndrome through microsatellite instability (MSI) and a rapid adenoma–carcinoma sequence. The primary methodologies for diagnosis include clinical criteria (Amsterdam I/II, Revised Bethesda Guidelines), computational models, and genetic testing (MSI, immunohistochemistry, germline testing). Universal genetic testing of colorectal cancers has gained popularity as a method to identify high-risk individuals and to offer appropriate cancer surveillance, psychological reassurance, and family planning. Management includes short-interval surveillance with colonoscopy in those without colorectal cancer and colectomy for those with cancer. Long-term chemoprevention with aspirin may improve mortality.