Gut Liver.  2010 Jun;4(2):151-160.

Hereditary Colon Cancer: Lynch Syndrome

Affiliations
  • 1Gastrointestinal Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, USA. dchung@partners.org

Abstract

Lynch syndrome is the most common familial colorectal cancer syndrome. It is linked to germline mutations in one of four DNA mismatch repair (MMR) genes. A comprehensive family history is one important way to identify at-risk individuals. The elucidation of the molecular genetics of this syndrome has made it possible to screen for the disorder with molecular tests. Microsatellite instability and/or immunohistochemistry followed by germline testing for mutations in MMR genes is now a standard approach for clinically suspected cases. Correctly recognizing Lynch syndrome is essential for the application of appropriate screening and surveillance measures. Close surveillance and risk-reducing operations can decrease cancer-related mortality. In addition, counseling is an important component of the management of any family with Lynch syndrome.

Keyword

Lynch syndrome; Mismatch repair gene; Microsatellite instability; Immunohistochemistry; Hereditary nonpolyposis colon cancer; Colon cancer
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