Article
Prediction of MLH1 and MSH2 mutations in Lynch syndrome.
JAMA - 27 Sept 2006
Balmaña Judith, Stockwell David H, Steyerberg Ewout W, Stoffel Elena M, Deffenbaugh Amie M, Reid Julia E, Ward Brian, Scholl Thomas, Hendrickson Brant, Tazelaar John, Burbidge Lynn Anne, Syngal Sapna
Abstract excerpt
CONTEXT: Lynch syndrome is caused primarily by mutations in the mismatch repair genes MLH1 and MSH2. OBJECTIVES: To analyze MLH1/MSH2 mutation prevalence in a large cohort of patients undergoing genetic testing and to develop a clinical model to predict the likelihood of finding a mutation in at-risk patients. DESIGN, SETTING, AND PARTICIPANTS: Personal and family history were obtained for 1914 unrelated probands...
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