APCgene mutations causing familial adenomatous polyposis in Polish patients
β Scribed by Andrzej Plawski; Ryszard Slomski
- Publisher
- Springer-Verlag
- Year
- 2008
- Tongue
- English
- Weight
- 84 KB
- Volume
- 49
- Category
- Article
- ISSN
- 1234-1983
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## Communicated by Georgia Chenevix-Trench Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited predisposition to colorectal cancer, which is caused by germline mutations in the adenomatous polyposis coli (APC) gene. The APC mutations have been investigated in 46 Czech unrelat
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