Study of the regulatory promoter polymorphism (−938c>A) of b‑cell lymphoma 2 gene in breast cancer patients of mazandaran province in northern Iran

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. © 2017 journal of research in medical sciences.