Article
Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 15 Dec 2004
Lipton L R, Johnson V, Cummings C, Fisher S, Risby P, Eftekhar Sadat A T, Cranston T, Izatt L, Sasieni P, Hodgson S V, Thomas H J W, Tomlinson I P M
Abstract excerpt
PURPOSE: Hereditary nonpolyposis colon cancer (HNPCC) is a Mendelian dominant syndrome of bowel, endometrial, and other cancers and results from germline mutations in mismatch repair (MMR) genes. HNPCC is now best diagnosed on molecular grounds using MMR mutation screening, aided by microsatellite instability (MSI) and immunohistochemistry in tumors. Selection of families for molecular investigation of HNPCC is...
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