Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas
β Scribed by Cottrell, S.; Bodmer, W.F.; Bicknell, D.; Kaklamanis, L.
- Book ID
- 122753881
- Publisher
- The Lancet
- Year
- 1992
- Tongue
- English
- Weight
- 809 KB
- Volume
- 340
- Category
- Article
- ISSN
- 0140-6736
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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
## 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