Familial Adenomatous Polyposis.

نویسندگان

  • Alexia Waller
  • Sarah Findeis
  • Michael J Lee
چکیده

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.

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عنوان ژورنال:
  • Journal of pediatric genetics

دوره 5 2  شماره 

صفحات  -

تاریخ انتشار 2016