Association of damaging nsSNPs of XRCC1 with breast cancer

- Association of three damaging nsSNPs was studied with breast cancer.
- Genotype and menopausal status correlation was analysed.
- Estrogen receptor status and genotype correlation was studied.

BER is a pivotal repair system that works against endogenous DNA damages arising due to ROS produced from cellular metabolism. XRCC1 protein is a crucial protein of BER pathway that interacts with many proteins of this pathway and helps in maintaining genomic integrity. Single-nucleotide polymorphisms (SNPs) of this gene are reported to be associated with cancer risks. In our study, genotyping of SNPs was done for age matched cases (120) and controls (130) using PCR-RLFP method, which was further, validated using sequencing method. The association was assessed by Odds ratio and confidence interval calculated by Fisher's exact test. We found that AA genotype of rs25487 is significantly associated with increased risk of breast cancer means positive correlation of SNP rs25487 with breast cancer in West Indian population. Heterozygous (GA) genotype of SNP rs25487 increases the susceptibility to ER − ve breast cancer. Women with AA genotype (rs25487) were only postmenopausal and women with GG genotype were more at postmenopausal phase.