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APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis

✍ Scribed by Ficari, F.


Book ID
111724097
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
273 KB
Volume
82
Category
Article
ISSN
0007-0920

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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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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