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- Title
BRCA2 founder mutation in Slovenian breast cancer families.
- Authors
Krajc, Mateja; De Grève, Jacques; Goelen, Guido; Teugels, Erik
- 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.
- Publication
European journal of human genetics : EJHG, 2002, Vol 10, Issue 12, p879
- ISSN
1018-4813
- Publication type
Journal Article
- DOI
10.1038/sj.ejhg.5200886