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Genetic testing for colon cancer

Nature Clinical Practice Gastroenterology & Hepatology volume 3, pages 670–679 (2006)Cite this article

Abstract

Colon cancer remains the third leading cause of death due to cancer in the US, where it affected more than 145,000 individuals in 2005. Up to 30% of these cases exhibit familial clustering, which means that tens of thousands of individuals have a disease with a potentially definable genetic component. Approximately 3–5% of colon cancers are associated with high-risk, inherited colon cancer syndromes. Identification of the genes that cause these colon cancer syndromes, coupled with additional insights into their clinical course, has led to the development of specific management guidelines—and genetic tests—that can diagnose these familial disorders. These guidelines can be life-saving, not only for the affected patient, but also for their family members.

Key Points

  • Up to 30% of colon cancers in the US exhibit familial clustering, and 3–5% are associated with high-risk, inherited colon cancer syndromes

  • The genetic defects responsible for several of the inherited colon cancer syndromes, including familial adenomatous polyposis, MUTYH-associated polyposis, hereditary nonpolyposis colorectal cancer, juvenile polyposis syndrome, and Peutz–Jeghers syndrome, have been discovered in recent years

  • Genetic testing is now commercially available to help diagnose these heritable cancer syndromes

  • Genetic testing is not 100% sensitive for any syndrome, and professional counseling should accompany its use

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Authors and Affiliations

  1. Senior Gastroenterology Fellow at the University of Washington and Fred Hutchinson Cancer Research Center in Seattle, Seattle, WA, USA

    Andrew M Kaz

  2. Associate Professor of Medicine, Division of Gastroenterology, University of Washington School of Medicine, Seattle, WA, USA

    Teresa A Brentnall

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  1. Andrew M Kaz
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  2. Teresa A Brentnall
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Correspondence to Andrew M Kaz.

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Kaz, A., Brentnall, T. Genetic testing for colon cancer. Nat Rev Gastroenterol Hepatol 3, 670–679 (2006). https://doi.org/10.1038/ncpgasthep0663

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