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April 27, 2005

Progress in Genetic Testing, Classification, and Identification of Lynch Syndrome

Author Affiliations

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).

JAMA. 2005;293(16):2028-2030. doi:10.1001/jama.293.16.2028

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.

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