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Role of single nucleotide polymorphisms and haplotypes in BRCA1 in breast cancer: Czech case–control study

  • Epidemiology
  • Published:
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Abstract

We aimed at determining whether any association exists between six single nucleotide polymorphisms in breast cancer associated gene (BRCA1) and the risk of breast cancer. We constructed haplotypes and analyzed their importance as well. Clinico-pathological characteristics of breast cancer patients were included in the study to evaluate the prognostic impact of BRCA1 polymorphisms and haplotypes. Polymerase chain reaction-restriction fragment length polymorphism-based genotyping assays were used to determine the frequency of polymorphisms in codons 356, 871, 1038, 1183, 1436, and 1613 of BRCA1 in a group of 306 incident breast cancer patients and 313 unaffected controls of Czech origin. Statistical analyses revealed that the BRCA1 Arg356 allele may play a protective role in breast cancer (age-adjusted OR = 0.61, CI = 0.39–0.94, p = 0.026). We also observed a significant correlation between polymorphism Gln356Arg and stage (p = 0.026) in premenopausal cases suggesting that carriers of the wild Gln356Gln allele are at significantly higher risk of advanced disease. The most common haplotypes of BRCA1 did not play a significant role in breast cancer either as risk factors or as prognostic factors. The study on rare BRCA1 haplotypes however should be repeated using larger groups. In conclusion, the BRCA1-Gln356 allele presents risk factor in the onset and progression of breast cancer in Czech population and its use as a possible screening tool should be considered.

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Abbreviations

BRCA1:

breast cancer associated gene 1

CI:

95% confidence interval

OR:

odds ratio

SNP:

single nucleotide polymorphism

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Acknowledgements

This work was supported by Internal Grant Agency of the Czech Ministry of Health (grant No. 7527-3) and grant COST OC B20.001 from the Ministry of Education, Youth and Sports of the Czech Republic. The authors would like to express their sincere thanks to doctors and nurses of the Teaching Hospital in Motol and the General Teaching Hospital in Prague, and to all patients for their essential help and understanding.

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Authors and Affiliations

  1. Group for Biotransformations, Center of Occupational Medicine, National Institute of Public Health, Šrobárova 48, Prague 10,, 100 42, Czech Republic

    P. Soucek & T. Borovanova

  2. Department of Biochemistry and Experimental Oncology, 1st Faculty of Medicine, Charles University in Prague, U nemocnice 5, Prague 2,, 128 53, Czech Republic

    P. Pohlreich & Z. Kleibl

  3. Department of Oncology, General Teaching Hospital and 1st Faculty of Medicine, Charles University in Prague, U nemocnice 2, Prague 2,, 128 08, Czech Republic

    J. Novotny

Authors
  1. P. Soucek
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  2. T. Borovanova
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  3. P. Pohlreich
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  4. Z. Kleibl
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  5. J. Novotny
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Correspondence to P. Soucek.

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Soucek, P., Borovanova, T., Pohlreich, P. et al. Role of single nucleotide polymorphisms and haplotypes in BRCA1 in breast cancer: Czech case–control study. Breast Cancer Res Treat 103, 219–224 (2007). https://doi.org/10.1007/s10549-006-9367-9

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  • DOI: https://doi.org/10.1007/s10549-006-9367-9

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