Refining the Amsterdam Criteria and Bethesda Guidelines: Testing Algorithms for the Prediction of Mismatch Repair Mutation Status in the Familial Cancer Clinic

L.r. Lipton, V. Johnson, C. Cummings, S. Fisher, P. Risby, A.t. Eftekhar Sadat, T. Cranston, P. Sasieni, S.v. Hodgson, H.j.w. Thomas, Ian Tomlinson

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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 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.
Original languageEnglish
Pages (from-to)4934-4943
JournalJournal of Clinical Oncology
Volume22
Issue number24
DOIs
Publication statusPublished - 15 Dec 2004

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