Effect of SMAD4 gene polymorphism on breast cancer risk in Bangladeshi women

Background Breast cancer, one of the most prevalent cancer types among women worldwide as well as in Bangladesh, is the leading cause of cancer death in women throughout the globe. The risk of breast cancer development was found to be associated with genetic polymorphism according to several studies. As a convenient prognostic marker, a biomarker helps to identify disease progression, can lead to an effective therapeutic strategy, development of prognostic marker is very important for any cancer to initiate treatment strategy early to increase the possibility of the success rate of the treatment along with reduction of the treatment cost. This study aims to establish the correlation between polymorphism of SMAD4 rs10502913 and risk of breast cancer development in Bangladeshi women. This study was conducted on 70 breast cancer patients and 60 healthy volunteers through blood sample collection followed by DNA separation between the intervals of August 2019–October 2019. The collected DNA sample was arranged for the RFLP analysis of a PCR amplified fragments followed by gel electrophoresis. The obtained data was analyzed by structured multinomial logistic regression model. Results Obtained different fragment size after gel electrophoresis indicated different genotypes in this experiment. Our findings demonstrated that mutant homozygous A/A genotype, plays a significant role in breast cancer development among Bangladeshi women ( P = 0.006, OR = 4.9626, 95% CI = 1.9980–12.3261) compared to the reference homozygous G/G genotype. Moreover, heterozygous G/A genotype was also found to be significantly associated with the risk of breast cancer development ( P = 0.0252, OR = 2.6574, CI = 1.1295–6.2525). Considering the A/A genotype and G/A genotype combined, it also indicates a strong association of breast cancer development in Bangladeshi women ( P = 0.008, OR = 3.5630, CI = 1.6907–7.5068). Conclusion Our study indicated a novel association between SMAD4 (rs10502913) polymorphism and increased risk of breast cancer development in Bangladeshi women.