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Hans F. A. Vasen, MD; C. Richard Boland, MD

JAMA. 2005;293:2028-2030.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

The genetic basis of familial colorectal cancer (CRC) has been substantially clarified over the past 14 years, but the fine points are still emerging. The first breakthrough occurred in 1991, when the adenomatous polyposis coli gene was cloned and found to be the locus of germline mutations causing familial adenomatous polyposis.^1-2 This occurred because the disease has a dramatic and recognizable phenotype, and families were available for study.

With the APC gene identified, attention turned to Lynch syndrome—also called hereditary nonpolyposis colorectal cancer. This disease is more common by an order of magnitude but complicated by the fact that there are usually no physical manifestations of the disease until the affected individual develops cancer.³ As efforts to find the genes causing Lynch syndrome emerged, Vasen et al⁴ established the Amsterdam criteria in 1991 to identify familial clusters of CRC likely to . . . [Full Text of this Article]

Author Affiliations: Department of Gastroenterology, Leiden University Medical Center and the Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, the Netherlands (Dr Vasen); Division of Gastroenterology, Baylor University Medical Center, Dallas, Tex (Dr Boland).

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