Detecting the Frequency of c.5946delT Pathogenic Variant in the BRCA2 Gene and Associated Risk Factors Among Breast Cancer Patients Visiting Felege Hiwot Referral Hospital and University of Gondar Comprehensive Specialized Hospital

Abstract

Background

Breast cancer is one of the most common cancers and the leading cause of death for women worldwide, and the problem is currently getting worse. In Ethiopia, it has become one of the most prevalent cancers, with high rates of morbidity and mortality. The BRCA2 gene variant c.5946delT has been linked to a higher risk of developing breast cancer.

Objective

The aim of the present study was to detect the presence of the c.5946delT pathogenic variant in the BRCA2 gene and associated risk factors among breast cancer patients visiting FHRH and UoGCSH.

Methods

A cross-sectional study was conducted from September 2021 to October 2022. Peripheral blood samples were collected from 100 patients with breast cancer, and gDNA was extracted using the salting-out method as per the protocol provided in the manufacturer’s instructions. The BRCA2 gene c.5946delT variant was detected using the PCR-RFLP technique. The data were analyzed using SPSS version 23. P≤ 0.05 was considered statistically significant.

Results

In this study, we discovered that 2% of breast cancer patients had a c.5946delT pathogenic variant of the BRCA2 gene. In addition, the results suggested that the c.5946delT pathogenic variant and age at diagnosis were significantly correlated. On the other hand, there was no significant association between inhabitance and family history for the c.5946delT variant.

Conclusion

We have found out that breast cancer patients in the study area had the BRCA2 gene variant c.5946delT, which suggests that this pathogenic variant is linked to breast cancer. Hence, assessing gene alterations using the PCR technique is one of the most effective early diagnostic strategies for breast cancer that should be used in hospitals in order to lower mortality.

Keywords:

• BRCA2 gene
• breast cancer
• pathogenic variant
• risk factors

Abbreviations

BRCA, Breast Cancer; BSE, Breast cancer Self-Examination; FHRH, Felege Hiwot Referral Hospital; GWAS, Genome Wide Association Study; SPSS, Statistical Package of Social Sciences; UoGCSH, University of Gondar Comprehensive Specialized Hospital.

Data Sharing Statement

The data is available upon request from the corresponding author.

Ethical Approval and Consent

For this study, ethical clearance was obtained from the research and ethics committee of the Institute of Biotechnology, University of Gondar (IOB/139/11/2022). Additionally, written informed consent was obtained from each study subject to be involved in this study. The authors confirmed that the ethical principle was followed in the Declaration of Helsinki.

Acknowledgments

The authors would like to thank the University of Gondar for funding this research and all the study participants who participated in this work.

Author Contributions

All authors made a significant contribution to the work reported, whether that is in the conception, study design, execution, acquisition of data, analysis, and interpretation, or in all these areas; took part in drafting, revising, or critically reviewing the article; gave final approval of the version to be published; have agreed on the journal to which the article has been submitted; and agree to be accountable for all aspects of the work.

Disclosure

The authors declare no conflicts of interest in this work.

Additional information

Funding

This study was supported by the University of Gondar under researchers’ project number (139/1/2022).