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Familial Adenomatous Polyposis

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to 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.

Synonyms of Familial Adenomatous Polyposis

  • adenomatous polyposis of the colon (APC)
  • familial multiple polyposis
  • FAP
  • hereditary polyposis coli
  • multiple polyposis of the colon

Disorder Subdivisions

  • attenuated FAP
  • familial adenomatous polyposis
  • Gardner syndrome
  • Turcot syndrome

General Discussion

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. 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.

Organizations related to Familial Adenomatous Polyposis

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