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- Title
Novel germline APC mutations in Swedish patients with familial adenomatous polyposis and Gardner syndrome.
- Authors
Nilbert, M; Fernebro, J; Kristoffersson, U
- Abstract
Familial adenomatous polyposis (FAP) is a familial cancer syndrome in which affected individuals develop multiple adenomatous polyps and are thereby at greatly increased risk of developing colorectal cancer. Gardner syndrome is a variant of FAP, in which the patients also develop extraintestinal tumors, in particular osteomas and desmoid tumors. An attenuated form of the disease (AFAP) is associated with fewer polyps, but still a high risk for colorectal cancer. Germline mutations in the adenomatosis polyposis coli (APC) gene cause FAP and Gardner syndrome and have recently been associated also with the development of AFAP.
- Publication
Scandinavian journal of gastroenterology, 2000, Vol 35, Issue 11, p1200
- ISSN
0036-5521
- Publication type
Journal Article
- DOI
10.1080/003655200750056691