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  • Title: [Familial adenomatous polyposis: review of the literature and report of 3 cases].
    Author: Bronzino P, Rassu PC, Cassinelli G, Stanizzi T, Casaccia M.
    Journal: G Chir; 2003; 24(1-2):39-42. PubMed ID: 12728797.
    Abstract:
    The Authors describe three cases of Familial Adenomatous Polyposis, (FAP), in patients of the same family, mother and two daughters, with different stages of the disease. Familial adenomatous polyposis is a mendelian dominant inherited syndrome with an incidence of 1:11,000, caused by an alteration of APC gene, which causes multiple disorders of the development ecto-, endo- and mesoderma. The syndrome is characterized by the presence of adenomatous polyps in the gastroenteric tract, mostly in colon-rectum and duodenum with demonstrated adenoma-carcinoma sequence. In the family here reported a case of familial adenomatous polyposis at the adenomatous stage and two of cancer of colon-rectum are registered. In the first case surgery had a preventive aim, and ileo-rectal anastomosis was performed; in the other two cases the treatment was Miles operation with radical intention.
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