Avtor/Urednik		Krajc, Mateja; de Greve, Jacques; Goelen, Guido; Teugels, Erik
Naslov		BRCA2 founder mutation in Slovenian breast cancer families
Tip		članek
Vir		Eur J Hum Genet
Vol. in št.		Letnik 10, št. 12
Leto izdaje		2002
Obseg		str. 879-82
Jezik		eng
Abstrakt		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.
Deskriptorji		BREAST NEOPLASMS SUPPRESSION, GENETIC FOUNDER EFFECT MUTATION OVARIAN NEOPLASMS MIDDLE AGE AGED DNA MUTATIONAL ANALYSIS HAPLOTYPES MOLECULAR SEQUENCE DATA RNA SPLICING SLOVENIA