Founder BRCA1/2 mutations in the Europe: Slovenia July 29, 2010Posted by ramunas in BRCA, breast cancer, cancer genetics, genetic testing, hereditary cancer, ovarian cancer.
In Slovenia five highly recurrent specific mutations were identified: four in the BRCA1 gene (c.1687C>T, c.181T>G, c.5266dupC, c.181T> (BIC: 300T>A)) and one in the BRCA2 gene (c.7806-2A>G (BIC: IVS16-2A>G) [43, 61, 62]. Respectively, they accounted for 26%, 18%, 13% and 11% of BRCA1 mutations and 56% of BRCA2 mutations. The c.7806-2A>G in the BRCA2 gene appears to be an unique founder mutation in the Slovenian population, found in 26% (10/38) of all BRCA1/2 mutations harboring families. These 5 mutations account for 67% of the BRCA1/2 positive families .
My full review article: Janavicius R. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control