## 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
Detection of five novel germline mutations of the APC gene in Irish familial adenomatous polyposis families
β Scribed by Maureen J. O'Sullivan; Tanya M. Mulcahy; J. Cambell; Christoir B. O'Suilleabhain; William O. Kirwan; Cuimin T. Doyle; Tommie V. McCarthy
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 420 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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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
## Abstract Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome predisposing to colorectal cancer and affects 1 in 5β10,000 births. Inheritance of a mutant allele of the adenomatous polyposis coli (__APC__) gene is the cause of βΌ80% of FAP and 20β30% of an attenuated form of FAP
Inactivation of the adenomatous polyposis coli (APC) gene has been shown to initiate the majority of colorectal cancer (CRC), including a familial form called familial adenomatous polyposis (FAP). One consequence of the APC mutation is the activation of the β€-catenin (CTNNB1)/T-cell transcription fa