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