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Hereditary Colorectal Cancer

New England Journal of MedicinePublished 5 March 2003Open access
Henry T. Lynch, Albert de la Chapelle
Citations2,186
SJR quartileQ1
SJR score19.08
SNIP13.47
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TL;DR

This article provides an in-depth review of the two most common forms of familial colorectal cancer, and the identification of those at risk and the use of appropriate colonoscopic screening.

Abstract

The question, "Is cancer hereditary?" has been answered beyond any doubt through the discovery of germ-line cancer-causing mutations in a subset of colorectal cancers (CRCs). Clearly, this authentication of the role of genetics was not solely dependent on molecular genetic studies, since hereditary cancer syndromes such as familial adenomatous polyposis (FAP) had been known for at least 100 years, but molecular advances are clarifying and refining clinical impressions. Have clinicians acted on the importance of hereditary factors in cancer so that this knowledge might be translated into patient benefit? Data showing that 59% of patients with FAP still die of metastatic CRC suggest that the answer is no.

Keywords

MedicineBiochemistry, Genetics and Molecular Biology