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The Spectrum of APC Mutations in Children with Hepatoblastoma from Familial Adenomatous Polyposis Kindreds

✍ Scribed by Barbara A. Hirschman; Brad H. Pollock; Gail E. Tomlinson


Book ID
116683376
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
159 KB
Volume
147
Category
Article
ISSN
1097-6833

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Patients with Familial Adenomatous Polyposis (FAP) manifest numerous colorectal adenomas as well as benign and malignant extra-colonic lesions. Adenomatous polyposis coli (APC) gene mutations are the underlying genetic defect in FAP. We analyzed germline D N A of 81 unrelated FAP patients and evalua

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## Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and alm