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Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature

✍ Scribed by M.H. Nieuwenhuis; H.F.A. Vasen


Book ID
108110086
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
256 KB
Volume
61
Category
Article
ISSN
1040-8428

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Mutations in the adenomatous polyposis coli (APC) gene are responsible for the disease familial adenomatous polyposis (FAP), a dominantly inherited predisposition to colorectal cancer. The most common extra-colonic manifestation is congenital hypertrophy of the retinal pigment epithelium (CHRPE), ex

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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