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Clinical utility gene card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)

✍ Scribed by Aretz, Stefan; Vasen, Hans F A; Olschwang, Sylviane


Book ID
109849512
Publisher
Nature Publishing Group
Year
2011
Tongue
English
Weight
167 KB
Volume
19
Category
Article
ISSN
1018-4813

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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

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Germline mutations in the tumor-suppresor APC gene are associated with hereditary familial adenomatous polyposis (FAP) and somatic mutations are common in sporadic colorectal cancer. In this study, we report the identification of three novel germline mutations: 1682-1683insA, 3252-3253insAT, 3544A>T