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Surg Oncol Clin N Am. 2009 Oct;18(4):687-703. doi: 10.1016/j.soc.2009.08.001.

Genetic testing for hereditary colorectal cancer.

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  • 1Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH 43240, USA.


This article focuses on genetic testing for hereditary colorectal cancer syndromes. Genetic testing is now available in North America for all of the known hereditary colorectal cancer genes. In addition, most of these tests have improved significantly in the past few years with the inclusion of techniques to detect large rearrangements. As a result, clinicians are in a better position than ever to help families with these syndromes to identify the underlying genetic cause. This identification will ensure that they receive appropriate management, and will enable their relatives to determine their precise risks and to tailor their cancer surveillance.

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