Founder BRCA1/2 mutations in the Europe: Austria July 28, 2010Posted by ramunas in BRCA, breast cancer, cancer genetics, genetic testing, hereditary cancer, ovarian cancer.
In Austria the ratio of BRCA1 mutations to BRCA2 mutations is 2:1 (Rappaport, personal communication). There were initial reports for several apparently founder BRCA1 mutations in Austria [58, 59], although they (c.181T>G (BIC: 300T>G/C61G), c.5266dupC, c.1687C>T (BIC: 1806C>T)) represent common mutations prevalent in other European countries. In Austria these alterations represent 15%, 10% and 6% of the BRCA1 mutation families, respectively (Rappaport, personal communication). Of note, c.1687C>T is also frequent in Slovenia  and Sweden (BIC database). Haplotype analysis revealed a common ancestor for the Austrian and Swedish families, which may indicate Austrian origin of this mutation , although its even more common in Slovenia (26% of the BRCA1 mutation families) . Another common mutation is BRCA1 c.3016_3019del4 (BIC: 3135del4) (8% of the BRCA1 mutation families), which was also found in Italy . One BRCA1 mutation c.2676_2679del4 (BIC: 2795del4) was reported at least in three unrelated families in Austria only, what may represent founder effect [58, 59], however this mutation is uncommon. The most prevalent BRCA2 mutations are c.8363G>A (BIC: 8591G>A/W2788X), c.8754+1G>A (BIC: IVS21-1G>A) and c.3860delA (BIC: 4088delA), representing 9%, 7% and 6% of the BRCA2 mutation families respectively (Rappaport, personal communication).
My full review article: Janavicius R. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control