title: BRCA2 founder mutation in Slovenian breast cancer families.
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.
authors.affiliation: Institute of Oncology, Zaloska 2, 1000 Ljubljana, Slovenia.
authors.forename: Mateja
authors.initials: M
authors.lastname: Krajc
authors.forename: Jacques
authors.initials: J
authors.lastname: De Grève
authors.forename: Guido
authors.initials: G
authors.lastname: Goelen
authors.forename: Erik
authors.initials: E
authors.lastname: Teugels
mesh_terms: D000368:Aged; D024682:BRCA2 Protein / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D017524:Slovenia
chemical_list: D024682:BRCA2 Protein; D022821:RNA Splice Sites