## 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
APC mutations in familial adenomatous polyposis families in the Northwest of England
โ Scribed by John G. Armstrong; D. Rhodri Davies; Simon P. Guy; Ian M. Frayling; D. Gareth R. Evans
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 119 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
โฆ Synopsis
Communicated by Ellen
๐ SIMILAR VOLUMES
A family is presented with attenuated familial adenomatous polyposis of variable phenotype. The clinical features range from sparse right-sided polyposis and cancer in the proximal colon at the age of 34 to pan-colonic polyposis and cancer at the age of 68. Rectal sparing is common to all affected m
Familial adenomatous polyposis (FAP) is characterized by the presence of more than 100 colorectal adenomatous polyps with an almost inevitable progression to cancer. At-risk individuals are screened and, if affected, prophylactic colectomy is performed. Operative options include total colectomy with
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 โค-catenin (CTNNB1)/T-cell transcription fa