Article
American founder mutation for attenuated familial adenomatous polyposis.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association - 1 Jan 2008
Neklason Deborah W, Stevens Jeffery, Boucher Kenneth M, Kerber Richard A, Matsunami Nori, Barlow Jahn, Mineau Geraldine, Leppert Mark F, Burt Randall W
Abstract excerpt
BACKGROUND & AIMS: Specific mutations in the adenomatous polyposis coli (APC) gene can lead to an attenuated form of familial adenomatous polyposis (AFAP). Although AFAP mutation carriers have a 69% risk of colorectal cancer by age 80, clinical recognition remains a challenge in some cases because they present with few colonic adenomas and are difficult to distinguish clinically from patients with sporadic...
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