New Mutations in the APC Gene in Familial Adenomatous Polyposis: Detection, Characterization, and Analysis
✍ Scribed by T. A. Muzaffarova; N. I. Pospekhova; I. Yu. Sachkov; A. M. Kuz’minov; E. K. Ginter; A. V. Karpukhin
- Publisher
- Springer US
- Year
- 2005
- Tongue
- English
- Weight
- 281 KB
- Volume
- 139
- Category
- Article
- ISSN
- 0007-4888
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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
## 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
## Germline mutations within the adenomatous polyposis coli (APC ) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations with
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