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J Pediatr Genet 2016; 05(02): 078-083
DOI: 10.1055/s-0036-1579760
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Familial Adenomatous Polyposis

Alexia Waller
1   Department of Pathology, Baylor University Medical Center, Dallas, Texas, United States
,
Sarah Findeis
2   School of Medicine and Dentistry, Pennsylvania State University, Hershey, Pennsylvania, United States
,
Michael J. Lee
3   Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York, United States
› Author Affiliations
Further Information

Publication History

15 July 2015

10 August 2015

Publication Date:
15 March 2016 (online)

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Abstract

Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract. A variety of extraintestinal manifestations, including thyroid, soft tissue, and brain tumors, may also be present. These patients inevitably develop colorectal carcinoma by the fourth decade of life. In this review, the pathology, epidemiology, and genetic features of FAP are discussed.

Keywords

familial adenomatous polyposis - Turcot syndrome - Gardner syndrome
 

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