Clinical and Experimental Medicine

, Volume 17, Issue 4, pp 541–546 | Cite as

New single nucleotide polymorphisms (SNPs) in homologous recombination repair genes detected by microarray analysis in Polish breast cancer patients

  • Hanna Romanowicz
  • Dominik Strapagiel
  • Marcin Słomka
  • Marta Sobalska-Kwapis
  • Ewa Kępka
  • Anna Siewierska-Górska
  • Marek Zadrożny
  • Jan Bieńkiewicz
  • Beata Smolarz
Original Article


Breast cancer is the most common cause of malignancy and mortality in women worldwide. This study aimed at localising homologous recombination repair (HR) genes and their chromosomal loci and correlating their nucleotide variants with susceptibility to breast cancer. In this study, authors analysed the association between single nucleotide polymorphisms (SNPs) in homologous recombination repair genes and the incidence of breast cancer in the population of Polish women. Blood samples from 94 breast cancer patients were analysed as test group. Individuals were recruited into the study at the Department of Oncological Surgery and Breast Diseases of the Institute of the Polish Mother’s Memorial Hospital in Lodz, Poland. Healthy controls (n = 500) were obtained from the Biobank Laboratory, Department of Molecular Biophysics, University of Lodz. Then, DNA of breast cancer patients was compared with one of the disease-free women. The test was supported by microarray analysis. Statistically significant correlations were identified between breast cancer and 3 not described previously SNPs of homologous recombination repair genes BRCA1 and BRCA2: rs59004709, rs4986852 and rs1799950. Further studies on larger groups are warranted to support the hypothesis of correlation between the abovementioned genetic variants and breast cancer risk.


Breast cancer Polymorphisms Homologous recombination DNA repair Microarray analysis 



This study was supported by the Polish POIG Grant 01.01.02-10-005/08 TESTOPLEK from the European Regional Development Fund.


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

Authors’ contribution

D. S. and B. S. conceived and designed the experiments. M. S. K. and M. S performed the experiments—case group. H. R., B. S. and M. Z were involved in the case group design and collection. M. S. K, M. S., E. K. and A. S. G performed the experiments—control group. : M. S., M. S. K. and D.S analysed the case–control data. D. S contributed reagents/materials/analysis tools. B. S., H. R., D. S. and J. B contributed to the writing of manuscript. All authors approved the final manuscript.

Compliance with ethical standards

Conflict of interest

All authors declare that they have no conflict of interest.

Ethical approval

All the study participants gave a informed written consent. A formal consent was also issued by the Bioethical Committee of the Institute of the Polish Mother’s Memorial Hospital in Lodz (Approval Number, 10/2012) and Review Board at the University of Lodz (Approval number 7/KBBN-UŁ/II/2014).

Human and animal rights

This study 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.


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Copyright information

© Springer International Publishing Switzerland 2016

Authors and Affiliations

  • Hanna Romanowicz
    • 1
  • Dominik Strapagiel
    • 2
  • Marcin Słomka
    • 2
  • Marta Sobalska-Kwapis
    • 2
  • Ewa Kępka
    • 3
  • Anna Siewierska-Górska
    • 3
  • Marek Zadrożny
    • 4
  • Jan Bieńkiewicz
    • 5
  • Beata Smolarz
    • 1
  1. 1.Laboratory of Cancer Genetics, Department of Clinical PathomorphologyPolish Mother’s Memorial Hospital - Research InstituteLodzPoland
  2. 2.Biobank Lab, Department of Molecular Biophysics, Faculty of Biology and Environmental ProtectionUniversity of LodzLodzPoland
  3. 3.Department of Molecular Biophysics, Faculty of Biology and Environmental ProtectionUniversity of LodzLodzPoland
  4. 4.Department of Oncological Surgery and Breast DiseasesPolish Mother’s Memorial Hospital - Research InstituteLodzPoland
  5. 5.Department of Surgical, Endoscopic and Oncologic GynaecologyInstitute of Polish Mother’s Memorial HospitalLodzPoland

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