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Genetic diagnosis of familial adenomatous polyposis: detection of APC gene muta...
Albuquerque, C; Centro de Investigação de Patobiologia Molecular, Instituto Português de Oncologia, Lisboa.; Fidalgo, P; Chagas, C; Suspiro, A; Cravo, MFamilial adenomatous polyposis of the colon (FAP) is a dominant autosomic disease in which virtually 100% of the affected individuals develop colorectal cancer before the age of forty. The gene responsible for this disease (APC gene) is mutated in the germ line of these patients. The genetic diagnosis of FAP was initially done using linkage analysis. Because 95% of the mutations in APC gene result in a stop cod...
Value of congenital hypertrophy of the retinal pigment epithelium as diagnostic...
Chagas, C; Serviço de Gastrenterologia, Instituto Português de Oncologia, Hospital de Santa Maria, Lisboa.; Fidalgo, P; Martins, A; Barata, AFamilial Adenomatous Polyposis (FAP) is a dominant autosomic disease characterized by the development of hundreds to thousands of colonic adenomatous polyps. Affected patients have a 100% risk of colon cancer development if they are not submitted to a prophylactic colectomy. Identification of carriers depends on the detection of colonic polyps, and endoscopic surveillance must be offered to all descendents, inc...
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