The incidence of nine BRCA1 and BRCA2 mutations in breast cancer patients in Siberian region, Russia

By means of tetraprimer allele specific PCR we analyzed 595 DNA samples from peripheral blood of breast cancer patients for the presence of nine BRCA1/2 mutations. Eleven samples (1,85 %) were positive for the heterozygous presence of 5382insC BRCA1 mutation. One patient (0,17 %) was found to be the carrier of 185delAG BRCA1 mutation. We failed to register other seven mutations, namely 4153delA, 2963del10, 3819del5 and 3875del4 in BRCA1 gene as well as 9318delAAAA, 1528delAAAA and S1099X in BRCA2 gene. Taking in account a high possibility of cancer development in BRCA1/2 mutations carriers, our data suggest the reasonability of the inclusion of 5382insC and 185delAG BRCA1 mutations tests in screening programs for breast cancer risk estimation in Siberian region of Russia.