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).
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.
Vasen HFA, Boland CR. Progress in Genetic Testing, Classification, and Identification of Lynch Syndrome. JAMA. 2005;293(16):2028-2030. doi:10.1001/jama.293.16.2028