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Pattern of RAD51-G135C Polymorphism among Eastern Mediterranean Turkish Population and Association with Breast Cancer

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Abstract

The RAD51 gene encodes proteins that are important for the repair of double-strand DNA breaks by recombination. Thus, genetic variability in the gene may contribute to the occurrence and progression of breast carcinoma. We investigated the association of polymorphisms in the DNA repair genes RAD51-site 135G/C with the breast cancer risk. Genotypes were determined by PCR-RFLP assays in 55 female patients with breast cancers and 80 age-matched healthy controls. Bloods samples were taken from all the patients and health controls and DNA was isolated. The region of interest was amplified based on PCR. After amplification, we used a restriction enzyme (RAD51; MvaI) and digested the PCR product. Then, these DNA fragments were size separated in gel electrophoresis. We identified changes in the nucleotides in these specific regions and confirmed the genotyping via sequencing a subset of PCR products using an Applied Biosystems Automated Sequencer. We observed that both allele and genotype frequencies significantly differed between breast cancer patients and healthy control. The frequency of variant allele, C, was increased to 0.25 in breast cancer group as opposed to the frequency of 0.125 in control group. Similarly, the genotypes carrying the variant allele C (CC + GC) had an elevated frequency and increased odd’s ratio among breast cancer group. The obtained results indicate that the polymorphism of RAD51 genes may be associated with the incidence of breast cancer in the Eastern Mediterranean region population. We hypothesized that common polymorphisms in DNA repair and cell cycle regulator genes modify DNA repair machinery which contribute to breast cancer susceptibility.

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Funding

We would like to thank Kafkas University Scientific Research Project Directory (Project no. MMF-61/63) for supporting the current study.

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Authors and Affiliations

  1. Department of Bioengineering, Faculty of Engineering and Architecture, Kafkas University, Kars, Turkey

    Ilhami Gok

  2. Departments of Surgery, Adana Numune Training and Research Hospital, Adana, Turkey

    Süleyman Cetinkunar

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  1. Ilhami Gok
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Contributions

IG and SC performed the experiments, wrote and revised the paper. All authors read and approved the manuscript.

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Correspondence to Ilhami Gok.

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Conflict of interest. The authors declare that they have no conflict of interest.

Statement of compliance with standards of research involving humans as subjects. Prior to the research, the ethics committee approval was obtained from Kafkas University Medical Faculty, the Local Ethics Committee (no. B.30.2.ATA.0.01.00/53). Participants were informed about the process and “informed voluntary consent form” were obtained from all the participants.

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Ilhami Gok, Süleyman Cetinkunar Pattern of RAD51-G135C Polymorphism among Eastern Mediterranean Turkish Population and Association with Breast Cancer. Cytol. Genet. 55, 171–176 (2021). https://doi.org/10.3103/S0095452721020043

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