Prevalence of mutations BRCA1 5382insC, and CHEK2 1100delC in the population of Siberian region

Frequencies of the 5382insC mutation in the BRCA1 gene and the 1100delC mutation in the CHEK2 gene were compared in the group of breast cancer patients and the large-scale sample, consisting of 7920 DNA specimens from healthy residents of the city of Novosibirsk. Higher frequencies of these mutations in the patient group compared to the control sample (1.95% versus 0.25% for BRCA1 5382insC, and 1.78% versus 0.40% for CHEK2 1100delC) were observed, pointing to their association with susceptibility to breast cancer (OR = 7.86; 95% CI 3.51–17.30 and OR =4.46: 95% CI 2.04–9.49, respectively).