Abstract
BCL2 apoptosis regulator (BCL2) is a cause of tumorigenesis whose CA-repeat promoter polymorphisms has inconsistent association with various types of cancers. The association of BCL2 polymorphism with breast cancer was investigated in the Isfahan province of Iran. PCRamplification of the CA-repeat was followed by polyacrylamide gel electrophoresis and direct sequencing for 120 breast cancer women and an equal number of corresponding healthy control individuals. Seven different alleles, ranging from 11 to 17 CA-repeats were observed. Short alleles with 11 to 14 repeats were protective (OR 0.363, P = 0.001), but large alleles with 15 to 17 repeats were threatening against breast cancer development (OR 2.780, P = 0.001). Accordingly, genotypes with large alleles showed a higher risk of breast cancer development (OR 3.400, P = 0.004). ERS1\ERBB2 positive breast cancer patients, but not PGRpositive ones, showed protection against breast cancer (OR 0.405, OR 0.346 respectively). In conclusion, women with at least one large allele of BCL2 were 3.4 times at higher risk of breast cancer development in the Isfahan province of Iran.
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Data Availability
The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.
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Acknowledgements
This study has been conducted at the University of Isfahan, Iran and was supported financially by the Departments of Research, Technology and Graduate Offices (Grant No. 23456). The authors sincerely thank the volunteers for their participation.
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FG: Conception, design, collection, and/or assembly of data, data analysis. S-MJ: Conception, design, data analysis, interpretation, financial supports, drafting the manuscript, revising it critically for important intellectual content, and final approval of the manuscript. FA: Data analysis, interpretation, and drafting of the manuscript. ZF: Data analysis, interpretation, and drafting of the manuscript. MT: Conception, design, data analysis, interpretation, financial supports, drafting the manuscript, revising it critically for important intellectual content, and final approval of the manuscript.
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The study was approved by University of Isfahan Committee for Ethics. All experiments involving participants were performed in accordance with the seventh edition of the Helsinki declaration. Informed consent, including the aims, methods, and sources of funding, institutional affiliations of the researchers, the anticipated benefits and potential risks of the study, and post-study provisions, was obtained for each participant. We also informed each participant of their right to refuse.
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Ghorbani, F., Javadirad, SM., Amirmahani, F. et al. Associations of BCL2 CA-Repeat Polymorphism and Breast Cancer Susceptibility in Isfahan Province of Iran. Biochem Genet 59, 506–515 (2021). https://doi.org/10.1007/s10528-020-10013-y
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DOI: https://doi.org/10.1007/s10528-020-10013-y