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Data on Single Nucleotide Polymorphism of DNA Repair Genes and Breast Cancer Risk from Poland

  • Original Article
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Pathology & Oncology Research

Abstract

Single nucleotide polymorphisms (SNPs) may modify the risk of cancer. They may be then regarded as potential markers of carcinogenesis. The aim of this study was to analyze the frequency of genotypes and alleles of SNPs in DNA repair genes and to investigate the influence this genetic variation exerts on breast cancer in Polish females. The test group comprised 600 females with breast cancer and 600 healthy controls. Genomic DNA was isolated and the SNPs in DNA repair genes were determined by High-Resolution Melter (HRM) technique. Following polymorphisms were analysed: Arg399Gln (rs25487) of the XRCC1, Gly322Asp (rs4987188) of the hMSH2, Lys751Gln (rs13181) of the XPD, Arg188His (rs3218536) of the XRCC2, P871L (rs799917) of the BRCA1 and N372H (rs144848) of the BRCA2 gene. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each genotype and allele. Statistically significant correlations were identified between 4 single nucleotide polymorphisms and the breast cancer risk: rs25487 rs4987188 rs13181 and rs799917. The alleles XRCC1-Gln (OR 5.11; 95% CI 5.68–11.64, p < .0001), hMSH2-Asp (OR 4.66; 95% CI 3.90–5.56, p < .0001), XPD-Gln (OR 2.65; 95% CI 2.24–3.14, p < .0001) and BRCA1-L (OR 1.45; 95% CI 1.24–1.71, p < .0001) genes were strongly correlated with this malignancy. No correlation was found between the studied SNPs and tumor grading nor the lymph node status. Further research on larger groups is warranted to determine the influence of above-mentioned genetic variants on breast cancer risk.

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Acknowledgements

Authors acknowledge the financial support provided by the Institute of Polish Mother’s Memorial Hospital, Lodz, Poland, to conduct the study.

Funding

This work was supported by the Institute of Polish Mother’s Memorial Hospital, Lodz, Poland from the Statutory Development Fund.

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Authors and Affiliations

  1. Laboratory of Cancer Genetics, Department of Pathology, Institute of Polish Mother’s Memorial Hospital, Rzgowska 281/289, 93-338, Lodz, Poland

    Beata Smolarz & Hanna Romanowicz

  2. Department of Cytobiochemistry, Faculty of Biology and Environmental Protection, University of Lodz, Pomorska 141/143, 90-237, Lodz, Poland

    Magdalena Bryś & Ewa Forma

  3. Department of Oncological Surgery and Breast Diseases, Polish Mother’s Memorial Hospital - Research Institute, Rzgowska 281/289, 93-338, Lodz, Poland

    Marek Zadrożny

  4. Department of Surgical and Endoscopic Gynecology and Gynecologic Oncology, Polish Mothers’ Memorial Hospital-Research Institute, Rzgowska 281/289, 93-338, Lodz, Poland

    Jan Bieńkiewicz

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  1. Beata Smolarz
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Contributions

Conceived and designed the experiments: MB, BS, HR. Performed the experiments – case group: BS, EF. Case group design and collect: MZ, HR. Performed the experiments – control group: BS, EF. Analysed data: BS, HR, MB. Contributed reagents/materials/analysis tools BS. Contributed to the writing of manuscript: BS, HR, JB. All authors approved the final manuscript.

Corresponding author

Correspondence to Beata Smolarz.

Ethics declarations

Ethics approval and consent to participate.

This work was supported by the Institute of Polish Mother’s Memorial Hospital, Lodz, Poland from the Statutory Development Fund. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Disclosure of Potential Conflicts of Interest

Author Beata Smolarz declares that she has no conflict of interest. Author Magdalena Bryś declares that she has no conflict of interest. Author Ewa Forma declares that she has no conflict of interest. Author Marek Zadrożny declares that he has no conflict of interest. Author Jan Bieńkiewicz declares that he has no conflict of interest. Author Hanna Romanowicz declares that she has no conflict of interest.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

A formal consent was also issued by the Bioethical Committee of the Institute of the Polish Mother’s Memorial Hospital in Lodz (Approval number, 15.12.2010).

Consent for Publication

Not applicable, the manuscript doesn’t contain any individual person’s data.

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Smolarz, B., Bryś, M., Forma, E. et al. Data on Single Nucleotide Polymorphism of DNA Repair Genes and Breast Cancer Risk from Poland. Pathol. Oncol. Res. 25, 1311–1317 (2019). https://doi.org/10.1007/s12253-017-0370-8

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  • DOI: https://doi.org/10.1007/s12253-017-0370-8

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