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).
Russian Journal of Genetics – Springer Journals
Published: Jun 14, 2012
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