Communicated by Riccardo Fodde
Mutation in Brief
Article first published online: 31 MAR 2004
Copyright © 2004 Wiley-Liss, Inc.
Volume 23, Issue 5, page 522, May 2004
How to Cite
Bisgaard, M. L., Ripa, R. S. and Bülow, S. (2004), Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). Hum. Mutat., 23: 522. doi: 10.1002/humu.9234
Online Citation: Human Mutation, Mutation in Brief #705 (2004) Onlinehttp://www3.interscience.wiley.com/homepages/38515/pdf/mutation/705.pdf
- Issue published online: 31 MAR 2004
- Article first published online: 31 MAR 2004
- Manuscript Accepted: 11 DEC 2003
- Manuscript Received: 17 SEP 2003
- Cited By
- adenomatous polyposis coli;
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 almost 1,000 different pathogenic mutations have been identified in the APC gene up till now. We report 12 novel and 24′ previously described germline APC mutations from 48 unrelated Danish families. Four families with the mutation localized in the 3′ region of the gene showed great variance in phenotypic presentation. © 2004 Wiley-Liss, Inc.