Profuse familial adenomatous polyposis with an Adenomatous Polyposis Coli exon 3 mutation
β Scribed by Steven Nasioulas; Ian T. Jones; D. James B. St. John; Rodney J. Scott; Susan M. Forrest; R. J. McKinlay Gardner
- Book ID
- 110303553
- Publisher
- Springer Netherlands
- Year
- 2001
- Tongue
- English
- Weight
- 37 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1389-9600
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## 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
## 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
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