Lynch syndrome: clinical, pathological, and genetic insights.

Langenbeck's Archives of Surgery
Ralph SchneiderGabriela Möslein

Abstract

Lynch syndrome as the most common hereditary colorectal cancer syndrome and the most common cause of hereditary endometrial cancer is characterized by an autosomal dominant inheritance with a penetrance of 85-90%. The molecular genetic underlying mechanism is a mutation in one of the mismatch repair genes. In order to identify patients with Lynch syndrome, a nuclear family history should be ascertained and matched with the Amsterdam criteria. A different approach for identification is the adherence to Bethesda criteria and subsequent testing for microsatellite instability. In patients with unstable tumors as an indicator for mismatch repair deficiency, genetic counseling and mutation analysis are warranted. For families fulfilling the Amsterdam criteria, intensified screening is recommended, even if a pathogenic mutation is not identified. Individuals from families with a proven pathogenic mutation that are tested negative are at normal population risk for cancers and may be dismissed from intensified surveillance. Prophylactic surgery in high-risk individuals without neoplasia is not generally recommended. At the time of a colon primary, however, extended surgery should be discussed in the light of a high rate of metachronous ...Continue Reading

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Citations

Sep 21, 2013·Langenbeck's Archives of Surgery·Matthias KloorMagnus von Knebel Doeberitz
Jun 21, 2013·Der Internist·K Schrör, B H Rauch
Dec 18, 2013·Seminars in Diagnostic Pathology·Mark R WickJohn D Pfeifer
Nov 11, 2014·Open Medicine·Daiva KanopieneJeff Bacher

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