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

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Abstract

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).

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References

  1. Gevensleben, H., Serçe, N., and Büttner, R., Hereditary Breast and Ovarian Cancers, Pathologe, 2010, vol. 31, no. 6, pp. 438–444.

    Article  PubMed  CAS  Google Scholar 

  2. Lux, M.P., Fasching, P.A., and Beckmann, M.W., Hereditary Breast and Ovarian Cancer: Review and Future Perspectives, J. Mol. Med., 2006, vol. 84, no. 1, pp. 16–28.

    Article  PubMed  Google Scholar 

  3. Meindl, A., Ditsch, N., Kast, K., et al., Hereditary Breast and Ovarian Cancer—New Genes, New Treatments, New Concepts, Dtsch. Arztebl. Int., 2011, vol. 108, no. 19, pp. 323–330.

    PubMed  Google Scholar 

  4. Nevanlinna, H. and Bartek, J., The CHEK2 Gene and Inherited Breast Cancer Susceptibility, Oncogene, 2006, vol. 25, no. 43, pp. 5912–5919.

    Article  PubMed  CAS  Google Scholar 

  5. Johnson, N., Fletcher, O., Naceur-Lombardelli, C., et al., Interaction between CHEK2*1100delC and Other Low-Penetrance Breast-Cancer Susceptibility Genes: A Familial Study, Lancet, 2005, vol. 366, no. 9496, pp. 1554–1557.

    Article  PubMed  CAS  Google Scholar 

  6. Weischer, M., Bojesen, S.E., Ellervik, C., et al., CHEK2*1100delC Genotyping for Clinical Assessment of Breast Cancer Risk: Meta-Analyses of 26.000 Patient Cases and 27.000 Controls, J. Clin. Oncol., 2008, vol. 26, no. 4, pp. 542–548.

    Article  PubMed  Google Scholar 

  7. Voevoda, M.I., Kulikov, I.V., Shakhtshneider, E.V., et al., The Spectrum of Mutations in the Low-Density Lipoprotein Receptor Gene in the Russian Population, Russ. J. Genet., 2008, vol. 44, no. 10, pp. 1191–1194.

    Article  CAS  Google Scholar 

  8. Mitrofanov, D.V., Chasovnikova, O.B., Kovalenko, S.P., and Lyakhovich, V.V., Detection of the 5382insC Mutation in the Human BRCA1 Gene with Fluorescent Labeled Oligonucleotides, Mol. Biol. (Moscow), 2009, vol. 43, no. 6, pp. 930–936.

    Article  CAS  Google Scholar 

  9. Yang, L., Liang, W., Jiang, L., et al., A Novel Universal Real-Time PCR System Using the Attached Universal Duplex Probes for Quantitative Analysis of Nucleic Acids, BMC Mol. Biol., 2008, vol. 9, pp. 54–66.

    Article  PubMed  Google Scholar 

  10. Neuhausen, S.L., Founder Populations and Their Uses for Breast Cancer Genetics, Breast Cancer Res., 2000, vol. 2, no. 2, pp. 77–81.

    Article  PubMed  CAS  Google Scholar 

  11. Gorski, B., Cybulski, C., Huzarski, T., et al., Breast Cancer Predisposing Alleles in Poland, Breast Cancer Res. Treat., 2005, vol. 92, no. 1, pp. 19–24.

    Article  PubMed  CAS  Google Scholar 

  12. Pohlreich, P., Zikan, M., Stribrna, J., et al., High Proportion of Recurrent Germline Mutations in the BRCA1 Gene in Breast and Ovarian Cancer Patients from the Prague Area, Breast Cancer Res., 2005, vol. 7, no. 5, pp. 728–736.

    Article  Google Scholar 

  13. Ladopoulou, A., Kroupis, C., Konstantopoulou, I., et al., Germ Line BRCA1 and BRCA2 Mutations in Greek Breast/Ovarian Cancer Families: 5382insC Is the Most Frequent Mutation Observed, Cancer Lett., 2002, vol. 185, no. 1, pp. 61–70.

    Article  PubMed  CAS  Google Scholar 

  14. Tikhomirova, L., Sinicka, O., Smite, D., et al., High Prevalence of Two BRCA1 Mutations, 4154delA and 5382insC, in Latvia, Fam. Cancer, 2005, vol. 4, no. 2, pp. 77–84.

    Article  PubMed  CAS  Google Scholar 

  15. Lubin’ski, B., Gor’ski, B., Huzarski, T., et al., BRCA1-Positive Breast Cancers in Young Women from Poland, Breast Cancer Res. Treat., 2006, vol. 99, no. 1, pp. 71–76.

    Article  Google Scholar 

  16. Sokolenko, A.P., Rozanov, M.E., Mitiushkina, N.V., et al., Founder Mutations in Early-Onset, Familial and Bilateral Breast Cancer Patients from Russia, Fam. Cancer, 2007, vol. 6, no. 3, pp. 281–286.

    Article  PubMed  CAS  Google Scholar 

  17. Imyanitov, E.N., Hereditary Breast Cancer, Prakt. Onkol., 2010, vol. 11, no. 4, pp. 258–266.

    Google Scholar 

  18. Fedorova, O.E., Sinitska, O.N., Tikhomirova, L.P., et al., Analysis of Point Mutations in BRCA1 Gene Using Hybridization on Hydrogel Microchips, Mol. Biol. (Moscow), 2006, vol. 40, pp. 31–36.

    Article  CAS  Google Scholar 

  19. Loginova, A.N., Pospekhova, N.I., Lyubchenko, L.N., et al., Spectrum of Mutations in BRCA1 Gene in Hereditary Forms of Breast and Ovarian Cancer in Russian Families, Byull. Eksp. Biol. Med., 2003, vol. 136, no. 3, pp. 315–317.

    Article  Google Scholar 

  20. Sokolenko, A.P., Mitiushkina, N.V., Buslov, K.G., et al., High Frequency of BRCA1 5382insC Mutation in Russian Breast Cancer Patients, Eur. J. Cancer, 2006, vol. 42, no. 10, pp. 1380–1384.

    Article  PubMed  CAS  Google Scholar 

  21. Imyanitov, E.N., Molecular Diagnosis in Oncology, Mol. Biol. (Moscow), 2008, vol. 42, no. 5, pp. 687–698.

    Article  CAS  Google Scholar 

  22. Chekmariova, E.V., Sokolenko, A.P., Buslov, K.G., et al., CHEK2 1100delC Mutation Is Frequent among Russian Breast Cancer Patients, Breast Cancer Res. Treat., 2006, vol. 100, no. 1, pp. 99–102.

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Institute of Molecular Biology and Biophysics, Russian Academy of Medical Sciences, Novosibirsk, 630117, Russia

    O. B. Chasovnikova, D. V. Mitrofanov, M. S. Anisimenko, S. P. Kovalenko & V. V. Lyakhovich

  2. Novosibirsk State University, Novosibirsk, 630090, Russia

    S. P. Kovalenko & V. V. Lyakhovich

  3. Institute of Internal Medicine, Russian Academy of Medical Sciences, Novosibirsk, 630089, Russia

    M. I. Voevoda

Authors
  1. O. B. Chasovnikova
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  2. D. V. Mitrofanov
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  3. M. S. Anisimenko
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  4. M. I. Voevoda
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  5. S. P. Kovalenko
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  6. V. V. Lyakhovich
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Corresponding author

Correspondence to O. B. Chasovnikova.

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Original Russian Text © O.B. Chasovnikova, D.V. Mitrofanov, M.S. Anisimenko, M.I. Voevoda, S.P. Kovalenko, V.V. Lyakhovich, 2012, published in Genetika, 2012, Vol. 48, No. 6, pp. 768–772.

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Chasovnikova, O.B., Mitrofanov, D.V., Anisimenko, M.S. et al. Prevalence of mutations BRCA1 5382insC, and CHEK2 1100delC in the population of Siberian region. Russ J Genet 48, 656–659 (2012). https://doi.org/10.1134/S1022795412040047

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  • DOI: https://doi.org/10.1134/S1022795412040047

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