Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

BRCA2 founder mutation in Slovenian breast cancer families

BRCA2 founder mutation in Slovenian breast cancer families Linkage analysis has identified BRCA1 and BRCA2 germline mutations as the major cause for cancer predisposition in breast and/or ovarian cancer families. In previous screening efforts on Belgian families we had a BRCA1/2 gene mutation detection rate of 25%. 1 Here we report the results of a BRCA mutation screening in seven high-risk breast/ovarian cancer families from Slovenia. We found a single but highly recurrent BRCA2 splice site mutation (IVS16-2A>G) in three breast cancer-only families. This cancer-linked mutation could not be identified in three families with ovarian cancer, suggesting that the mutation predisposes at least predominantly to breast cancer. All mutation carriers shared a common disease associated haplotype indicating a founder effect. This mutation most probably occurred in a single ancestor and seems essentially confined to the Slovene population. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png European Journal of Human Genetics Springer Journals

BRCA2 founder mutation in Slovenian breast cancer families

Loading next page...
 
/lp/springer-journals/brca2-founder-mutation-in-slovenian-breast-cancer-families-GSkI5evSJK

References (13)

Publisher
Springer Journals
Copyright
Copyright © 2002 by Macmillan Publishers Limited
Subject
Biomedicine; Biomedicine, general; Human Genetics; Bioinformatics; Gene Expression; Cytogenetics
ISSN
1018-4813
eISSN
1476-5438
DOI
10.1038/sj.ejhg.5200886
Publisher site
See Article on Publisher Site

Abstract

Linkage analysis has identified BRCA1 and BRCA2 germline mutations as the major cause for cancer predisposition in breast and/or ovarian cancer families. In previous screening efforts on Belgian families we had a BRCA1/2 gene mutation detection rate of 25%. 1 Here we report the results of a BRCA mutation screening in seven high-risk breast/ovarian cancer families from Slovenia. We found a single but highly recurrent BRCA2 splice site mutation (IVS16-2A>G) in three breast cancer-only families. This cancer-linked mutation could not be identified in three families with ovarian cancer, suggesting that the mutation predisposes at least predominantly to breast cancer. All mutation carriers shared a common disease associated haplotype indicating a founder effect. This mutation most probably occurred in a single ancestor and seems essentially confined to the Slovene population.

Journal

European Journal of Human GeneticsSpringer Journals

Published: Dec 3, 2002

There are no references for this article.