The association of polymorphisms in base excision repair gene PARP1 with breast cancer in female population in Baghdad

Abstract

Approximately 5%-10% of breast cancer cases are believed to be hereditary, caused by inherited gene mutations. In healthy cells, these genes play a role in producing proteins responsible for repairing damaged DNA. When these genes undergo mutations, it can result in irregular cell growth, ultimately contributing to the development of cancer.The aim of this study is to investigate the association between PRAP1 rs2666428 and rs8679 gene polymorphisms with breast cancer risk in female population in Baghdad. A case-control study was involved 40 female breast cancer patients who were recruited from the Medical City, Oncology teaching hospital, Baghdad, Iraq, between June and October 2023. DNA extracted from whole blood and the gene fragments corresponding to the PARP1 rs2666428, rs8679 were amplified using conventional PCR. The genotyping was performed through Sanger sequencing. Patients’ results were then compared with 40 age and gender- matched control subjects. There were significant differences in the genotypic distribution in the rs8679 polymorphism between patients and controls, in that the TG and TT genotypes showed apparent differences in the genotypic distribution that confirmed by Chi-square (Chi2) test results. The risk of malignancy showed to be higher by about 3.18 times in patients with G allele than those with T allele. Genotypic distribution of the rs2666428 polymorphism showed a nearly similar distribution of CC, CT and TT genotypes in controls comparing to patients that also confirmed by Chi2 results with no associated between the malignancy risk and the allelic frequency in that C and T alleles frequencies showed to be nearly similar in patients to those of controls. Genetic polymorphism of PARP1 rs8679 may be considered as a potential risk factor for the development of breast cancer and may be used as a diagnostic and prognostic marker while PARP1 rs2666428 polymorphism was not associated with breast cancer.

Keywords

• Genetic polymorphism
• PARP1
• rs2666428
• rs8679
• breast cancer
• BER gene
• Diagnostic marker
• prognostic marker

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