Association of XPC rs2228001, ESR2 rs1256030, and rs4986938 Gene Polymorphisms With Breast Cancer Risk in Bangladeshi Women: A Case-Control Study.

[BACKGROUND AND AIMS] Breast cancer is one of the most destructive diseases among females worldwide, especially in developing countries. XPC and ESR2 genes have been identified in multiple malignancies. Therefore, we aimed to determine the association of XPC (rs2228001) and ESR2 (rs1256030/rs4986938) polymorphisms with breast cancer susceptibility in the Bangladeshi population.

[METHODS] This case-control study was carried out on 220 breast cancer patients and 208 healthy volunteers. Genotyping was performed using the polymerase chain reaction (PCR)-restriction fragment length polymorphism (PCR-RFLP) technique. Analyses were conducted using the statistical software application SPSS (version 25.0). Logistic regression was employed to assess the genetic association, employing the odds ratio (OR) and 95% confidence intervals (CIs).

[RESULTS] The XPC rs2228001 polymorphism demonstrated a significant association with breast cancer risk, with the CC genotype (OR = 3.27, P = .009), dominant model (OR = 1.67, P = .011), recessive model (OR = 2.87, P = .019), and allelic model (OR = 1.69, P = .002). The ESR2 rs1256030 variant exhibited a significantly elevated risk of breast cancer across all genetic models (P < .05). Whereas, the ESR2 rs4986938 polymorphism showed a significant correlation with breast cancer susceptibility in the TT genotype under the additive model 2 (OR = 3.83, P = .011) and the recessive model (OR = 3.73, P = .021).

[CONCLUSION] Our study concluded that the XPC rs2228001, ESR2 rs1256030, and ESR2 rs4986938 gene polymorphisms might be associated with breast cancer risk in the Bangladeshi women. Larger studies across diverse populations are recommended to validate these findings.