Andrew M. Kaz; Teresa A. Brentnall


Nat Clin Pract Gastroenterol Hepatol. 2006;3(12):670-679. 

In This Article

Summary and Introduction


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.


Colon cancer is the third leading cause of death due to cancer in the US, and the cumulative lifetime risk of developing colorectal cancer is approximately 5-6%.[1] Almost one-third of these cases exhibit familial clustering. Although the specific genetic defects involved in most moderate-risk familial colon cancers have not yet been elucidated, the molecular genetics of several high-risk, inherited, colon cancer syndromes have been determined. The clinical presentation and genetics of the major inherited colon cancer syndromes are addressed in this article, with particular attention paid to genetic testing, including its indications, methods, and potential pitfalls. Finally, the fundamental role of the genetic counselor is explored.


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