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Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations

Abstract

The spectrum of BRCA1/2 mutations demonstrates significant interethnic variations. We analyzed for the first time the entire BRCA1/2 coding region in 340 Belarusian cancer patients with clinical signs of BRCA1/2-related disease, including 168 women with bilateral and/or early-onset breast cancer (BC), 104 patients with ovarian cancer and 68 subjects with multiple primary malignancies involving BC and/or OC. BRCA1/2 pathogenic alleles were detected in 98 (29%) women, with 67 (68%) of these being represented by founder alleles. Systematic comparison with other relevant studies revealed that the founder effect observed in Belarus is among the highest estimates observed worldwide. These findings are surprising, given that the population of Belarus did not experience geographic or cultural isolation throughout history.

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Data Availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

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Funding

The study was supported by the Russian Foundation for Basic Research [grant number 20-515-00002] and Belarusian Republican Foundation for Basic Research [grant number M20P-40].

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Yanus, G.A., Savonevich, E.L., Sokolenko, A.P. et al. Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations. Familial Cancer (2022). https://doi.org/10.1007/s10689-022-00296-y

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  • DOI: https://doi.org/10.1007/s10689-022-00296-y

Keywords

  • Belarus
  • BRCA1/2
  • Breast cancer
  • Founder mutations
  • Ovarian cancer