Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2

A large population-based study was conducted to determine the frequency of Ashkenazi-specific founder mutations in BRCA1 and BRCA2. Mutation screening was carried out on approximately 3000 Ashkenazi Jewish people and a carrier frequency of 1.09% was determined for the 185delAG mutations and 0.13% for the 5382insC mutation. BRCA2 analysis on 3085 individuals from the same population showed a carrier frequency of 1.52% for the 6174delT mutation. This population-based study confirms that founder mutations in BRCA1 or BRCA2 are present in approximately 2.5% of unselected Ashkenazi Jews.