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Familial Adenomatous Polyposis

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Abstract

Although the description of the first patient occurred more than 100 years ago, familial adenomatous polyposis (FAP or adenomatosis coli) continues to be the object of several convergent lines of scientific and medical interest. Familial gastrointestinal polyposis includes various rare syndromes with the common features of numerous polyps (often adenomatous) scattered in the various tracts of the large bowel and an autosomal dominant pattern of genetic transmission [1, 2]. The occurrence of other clinical manifestations will determine the development of specific phenotypes; thus, for instance, in Gardner’s syndrome (which is considered a variant of FAP) colorectal adenomas are associated with osteomas of the skull and mandible, epidermoid cysts and soft-tissue tumors [3].

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Ponz de Leon, M. (2002). Familial Adenomatous Polyposis. In: Colorectal Cancer. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56008-8_11

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