Biochip analysis of BRCA1/2 and CHEK2 common mutations in ovarian cancer and primary multiple tumors involving the ovaries (Russian population)

Abstract

Ovarian cancer (OC) is among the leading causes of cancer-related mortality in women. A high risk of OC (lifetime estimates ranging 10–60%) is determined by BRCA1/2 mutations. The 1100delC variant of CHEK2 is associated with predisposition to breast cancer (BC) in women. With the known spectrum and frequencies of mutations of these genes, it is possible to identify a risk group in a population. Using biochip technology, the frequencies of eight BRCA1/2 and CHEK2 mutations (185delAG, 300T>G, 4153delA, 4158A>G, and 5382insC of BRCA1; 695insT and 6174delT of BRCA2; and 1100delC of CHEK2) were studied in Russian women with OC, including 68 patients with organ-specific OC and 19 with primary multiple tumors (PMTs) involving the ovaries. Four BRCA1 mutations were observed: 185delAG, 300T>G, 4153delA, and 5382insC. The last one was most common in OC, accounting for 87.5% of all cases with mutant BRCA1, and occurred at a frequency of 50.0% in PMT. BRCA2 and CHEK2 mutations were not found in the two groups.