Role of molecular diagnostic testing in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer families |
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| Authors: | Rogério Rabelo M.D. Ph.D. William Foulkes M.B.B.S. Ph.D. Philip H. Gordon M.D. FRCSC Nora Wong M.S. Zhi Qiang Yuan M.D. Elizabeth MacNamara M.D. George Chong Ph.D. Leonard Pinsky M.D. FRCPC Dana Lasko Ph.D. |
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| Affiliation: | (1) From the Department of Medical Biochemistry, Sir Mortimer B. Davis-Jewish General Hospital and McGill University, Montreal, Quebec, Canada;(2) the Department of Medicine, Sir Mortimer B. Davis-Jewish General Hospital and McGill University, Montreal, Quebec, Canada;(3) the Department of Surgery, Sir Mortimer B. Davis-Jewish General Hospital and McGill University, Montreal, Quebec, Canada;(4) the Department of Human Genetics, Sir Mortimer B. Davis-Jewish General Hospital and McGill University, Montreal, Quebec, Canada;(5) Cancer Prevention Research Unit, Sir Mortimer B. Davis-Jewish General Hospital and McGill University, Montreal, Quebec, Canada |
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| Abstract: | PURPOSE: Genetic tests are available for familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer. The goal of this review was to develop an algorithm for application of molecular diagnostic techniques to the management of hereditary colorectal carcinoma and to familiarize the clinician with the vocabulary of molecular genetic testing for hereditary colorectal carcinoma. METHODS: Studies examining the clinical use of genetic testing for hereditary colorectal carcinoma syndromes are evaluated. Recent advances in molecular genetic technology are reviewed, and clinical management as practiced here and elsewhere is outlined. RESULTS: This review is a guide to the most reliable molecular diagnostic techniques. Three key questions are answered: who, when, and how to test. CONCLUSIONS: When integrated with existing testing protocols for colorectal carcinoma and when applied with appropriate caveats, particularly regarding interpretation of negative results, genetic testing can result in improved management of patients and families. |
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| Keywords: | Genetic testing Hereditary colorectal cancer syndromes Mutation detection |
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