Exploring the Relationship Between MDM4 Gene Polymorphisms (rs1380576 and rs4245739) and Breast Cancer Susceptibility in Bangladesh: A Case-Control Study.

[BACKGROUND] Breast cancer (BC) is the most common malignancy among Bangladeshi women. MDM4 gene polymorphisms have been implicated in BC susceptibility, but data from South Asian populations remain limited.

[METHODS] This case-control study included 112 BC patients from a cancer hospital, Dhaka, Bangladesh, and 124 age- and sex-matched healthy controls (HC) from the surrounding areas. Genotyping of MDM4 rs1380576 and rs4245739 polymorphisms was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.

[RESULTS] Genotype distributions of both polymorphisms conformed to Hardy-Weinberg equilibrium. No association was observed for rs4245739 A>C under any genetic model. In contrast, rs1380576 C>G showed an increased BC risk for CC versus GG (aOR = 3.93; 95% CI = 2.09-7.38; p < 0.001) and for CG + CC versus GG (aOR = 2.04; 95% CI = 1.19-3.50; p = 0.009). The recessive model also indicated elevated risk for CC carriers (aOR = 4.58; 95% CI = 2.46-8.55). A protective effect was observed for the heterozygous genotype in the over-dominant model (aOR = 0.11; 95% CI = 0.02-0.47; p = 0.003).

[CONCLUSION] The MDM4 rs1380576 C>G polymorphism, particularly the CC genotype, is associated with increased BC risk in Bangladeshi women, whereas rs4245739 A>C shows no association. These findings suggest rs1380576 may serve as a potential genetic marker for BC susceptibility in this population.