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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The Rational Clinical Examination
Box 20-1 Examples of Clinical Diagnostic Criteria for 2 Familial Cancer Syndromes and Recommendations Regarding Genetic Testing for Cancer Susceptibility
Figure 20-1. Hypothetical Pedigree for a Consultand With a Family History Suggestive of a...
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