NORD gratefully acknowledges Randall W. Burt, MD, Professor of Medicine, University of Utah School of Medicine; Senior Director for Prevention and Outreach, Huntsman Cancer Institute, University of Utah and Kory Jasperson, MS, Genetic Counselor, Huntsman Cancer Institute, University of Utah, for assistance in the preparation of this report.
Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps (adenomatous polyps). If left untreated, affected individuals inevitably develop cancer of the colon and/or rectum at a relatively young age. FAP is inherited in an autosomal dominant manner and caused by abnormalities (mutations) in the APC gene. Mutations in the APC gene cause a group of polyposis conditions that have overlapping features: familial adenomatous polyposis, Gardner syndrome, Turcot syndrome and attenuated FAP.
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National Organization for Rare Disorders (NORD)
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