Study of the regulatory promoter polymorphism (?938C>A) of B?cell lymphoma 2 gene in breast cancer patients of Mazandaran province in Northern Iran

Sepideh Esfahani Moghaddam, Ali Barzegar, Novin Nikbakhsh


Background: The incidence rate of breast cancer has been dramatically increasing since the last decade in Iran, and it is now one of the most common female malignant tumors. B?cell lymphoma 2 (BCL2) family is the most important regulator of apoptosis, and ?938C>A single nucleotide polymorphism (SNP) of BCL2 gene promoter has been demonstrated to influence breast cancer susceptibility. In this research, we study the effect of ?938C>A allelic variants on breast cancer risk in Mazandaran province at the North of Iran. Materials and Methods: This analysis performed on 120 breast cancer patients who underwent surgery in some referenced hospitals at Mazandaran province along with 130 healthy individuals as a control. DNA extracted from peripheral blood samples was applied in polymerase chain reaction?single?strand conformation polymorphism analysis to determine ?938C>A genotype. The association of the ?938C>A genotype and breast cancer risk as well as clinicopathological characters were analyzed by logistic regression method. Results: Results showed that genotype frequency of AA, AC, and CC genotypes was 10%, 62%, and 28% for case and 28%, 50%, and 22% in control group, respectively. In the logistic regression model, BCL2 ? 938C/A variant genotype AA was associated with a decreased risk of breast cancer (P = 0.041) by 0.31?fold (odds ratio = 0.31, confidence interval = 0.091–0.909) compared to CC genotype. However, no significant association found between ?938C>A genotype and clinicopathological characters. Conclusion: The study showed that AA genotype of BCL2 gene (?938C>A) is associated with decreased susceptibility to breast cancer. Hence, investigating the ?938C>A SNP of BCL2 gene promoter could be an appropriate molecular marker to determine individual sensitivity to breast cancer.


Key words: ?938C>A, B?cell lymphoma 2, breast cancer, polymerase chain reaction?single?strand conformation polymorphism, polymorphism

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