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- Title
Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic.
- Authors
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
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 usually based on suboptimal methods (Amsterdam Criteria or Bethesda Guidelines), but these can be improved using additional clinical data (mean ages of affected persons and presence of endometrial cancer) in a quantitative model.
- Publication
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2004, Vol 22, Issue 24, p4934
- ISSN
0732-183X
- Publication type
Journal Article
- DOI
10.1200/JCO.2004.11.084