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2q35-rs13387042 variant and the risk of breast cancer: a case–control study

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Abstract

Background

Breast Cancer is the most frequent neoplasm diagnosed among women worldwide. Genetic background and lifestyle/environment play a significant role in the disease etiology. According to Genome-wide association studies, some single-nucleotide polymorphisms such as 2q35-rs13387042–(G/A) have been introduced to be associated with breast cancer risk and features. In this study, we aimed to evaluate the association between this variant and the risk of breast cancer in a cohort of Iranian women.

Methods

Demographics and clinical information were collected by interview and using patients’ medical records, respectively. DNA was extracted from 506 blood samples, including 184 patients and 322 controls, and genotyping was performed using allele specific-PCR. SPSS v16 was used for statistical analysis.

Result

Statistically significant association was observed between AA genotype and disease risk in all patients [padj = 0.048; ORadj = 2.13, 95% CI (1.01–4.50)] and also ER-positive breast cancers [padj = 0.015; ORadj = 2.12, 95% CI (1.16–3.88)]. There was no association between rs13387042 and histopathological characteristics of the disease. Furthermore, overall survival was not statistically associated with genotype and allelic models even after adjustment for stage and receptor status (p > 0.05).

Conclusion

There is a statistically significant association between 2q35-rs13387042 and breast cancer risk. rs13387042-AA genotype might be a risk-conferring factor for breast cancer development in the Iranian population. However, further consideration is suggested to confirm its role in risk assessment and probable association with other genetic markers.

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Data availability

The analyzed data sets generated during the present study are not available due to the university rules and regulations, however, upon written request, subjected to approval by the university, some parts may be available.

Code availability

Not applicable.

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Acknowledgements

The authors thank all participants who took part in this study. We would also like to thank Mashhad University of Medical Sciences, Omid and Imam Reza hospitals who supported this project.

Funding

This work was based on the Master of Science thesis of Mr. Abolfazl Nesaei and partly was financially supported by Mashhad University of Medical Sciences under Grant 931028.

Author information

Author notes

  1. Abolfazl Nesaei, Zari Naderi Ghale-noie and Asma Khorshid Shamshiri have contributed equally to this work.

Authors and Affiliations

  1. Department of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran

    Abolfazl Nesaei

  2. Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

    Zari Naderi Ghale-noie, Asma Khorshid Shamshiri, Fahimeh Afzaljavan, Mahdi Rivandi, Amir Tajbakhsh & Alireza Pasdar

  3. Cancer Research Center, Mashhad University of Medical Sciences, Mashhad, Iran

    Fatemeh Homaei Shandiz

  4. Division of Applied Medicine, Medical School, University of Aberdeen, Foresterhill, Aberdeen, UK

    Alireza Pasdar

  5. Medical Genetics Research Center, Faculty of Medicine, Mashhad University of Medical Scienses, Mashhad, Iran

    Alireza Pasdar

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  1. Abolfazl Nesaei
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Contributions

Design of the research: AN, FA and AP. Data collection: AN, ZNG, FA, AT, MR, FHS and AKS. Laboratory work: AN, ZNG. Statistical analysis: FA and AKS. Manuscript drafting: ZNG, FA, AKS and AP. AP edited and approved the final version of this manuscript. All authors also participated in the finalization of the manuscript and approved the final draft. 

Corresponding author

Correspondence to Alireza Pasdar.

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No potential conflicts of interest were disclosed.

Ethical approval

The study was approved by the Ethics Committee of Mashhad University of Medical Sciences (Ethic No: IR.MUMS.REC.1394.186).

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Written informed consent was obtained from all participants included in the study.

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Nesaei, A., Naderi Ghale-noie, Z., Khorshid Shamshiri, A. et al. 2q35-rs13387042 variant and the risk of breast cancer: a case–control study. Mol Biol Rep 49, 3549–3557 (2022). https://doi.org/10.1007/s11033-022-07195-6

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  • DOI: https://doi.org/10.1007/s11033-022-07195-6

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