Author/Editor | Krajc, Mateja; de Greve, Jacques; Goelen, Guido; Teugels, Erik | |
Title | BRCA2 founder mutation in Slovenian breast cancer families | |
Type | članek | |
Source | Eur J Hum Genet | |
Vol. and No. | Letnik 10, št. 12 | |
Publication year | 2002 | |
Volume | str. 879-82 | |
Language | eng | |
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 familles we had a BRCAI/2 gene mutation detection rate of 25%. 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 (IVS76-2A>G) in three breast cancer-only families. This cancerlinked 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 proba6ly occurred in a single ancestor and seems essentially confined to the Slovene population. | |
Descriptors | BREAST NEOPLASMS SUPPRESSION, GENETIC FOUNDER EFFECT MUTATION OVARIAN NEOPLASMS MIDDLE AGE AGED DNA MUTATIONAL ANALYSIS HAPLOTYPES MOLECULAR SEQUENCE DATA RNA SPLICING SLOVENIA |