Evaluation of ERCC4 (XPF) gene rs6498486 polymorphism and its potential role in breast cancer risk among Bangladeshi women

This research aims to evaluate the polymorphism of the ERCC4 (XPF) gene (rs6498486) and explore its potential association to breast cancer development in women of Bangladesh, may contribute to design the screening programs for risk estimation, and to design target-based and cost-efficient treatment for the management of the disease. DNA was extracted from blood samples collected from 150 breast cancer patients and 150 healthy controls to identify rs6498486 polymorphism. For the genotyping of ERCC4 gene, PCR-RFLP method was used. After measuring extracted DNA samples, the pertinent genomic areas of ERCC4 containing the SNPs of interest were amplified by primer-directed PCR to synthesize ERCC4 alleles with their respective length. Then the PCR products were digested with MnLI and the digested fragments of the PCR amplification products were visualized under UV using a gel documentation system to enable size evaluation and allow for accurate, reliable genotyping of samples. AC genotype carriers in additive model 1 (AA vs. AC) showed 5.0476-fold increase in risk of breast cancer development (OR = 5.0476; 95% CI = 2.5207 to 10.1075; P = 0.0001). The CC variant homozygote genotype carriers in additive model 2 (AA vs. CC) also showed a highly increased risk of 7.1111 times (OR = 7.1111; 95% CI = 3.0196 to 16.7464; P = 0.0001). The combined genotype of AC + CC in the dominant model (AC + CC vs. AA) was found to have a higher risk of 5.4118 to breast cancer progression (OR = 5.4118; 95% CI = 2.7351 to 10.7078; P = 0.0001). In the latent model (CC vs. AA + AC), CC carriers had shown a high risk of 1.9887 to the progression of breast cancer (OR = 1.9887; 95% CI = 1.0607 to 3.7288; P = 0.0321). Carriers of the C allele in the allelic model had a higher risk of 1.9615 times (OR = 1.9615; 95% CI = 1.4175 to 2.7143; P = 0.0001). Results were found statistically significant (P < 0.05), and a strong association between CC genotypes and patients even with at least one C allele in the genetic sequence. ERCC4 gene (rs6498486) polymorphism was associated with the probability of breast cancer in Bangladeshi women which may serve as a genetic susceptibility marker for breast cancer risk assessment.