Single nucleotide polymorphisms for DNA repair genes in breast cancer patients

The incidence rate for breast cancer (BC) has been increasing in many countries and BC still remains the most common form of cancer in female and continues to be a major health problem worldwide. We explored the association of single nucleotide polymorphisms (SNPs) in DNA repair genes with breast cancer.

SSCP and RFLP were used to analyze genotypes of DNA repair genes for NBS1, XPC, XPD and XRCC3.

T/C in XRCC3 exon 7 had a somewhat deviation from HWE in BC group (P=0.08). The genotype frequency for heterozygote A/C in XPC exon 15 and T/C in XRCC3 exon 7, homozygote A/A in XPD exon 10 were significantly different between BC group and control group in Chinese population (P<0.05, OR=1.47, 95% CI, 1.00-2.16 for A/C in XPC exon 15; P<0.05, OR=1.79, 95% CI, 0.98-3.26 for T/C in XRCC3 exon 7; P<0.05, OR=0.51, 95% CI, 0.27-0.94 for G/A in XPD exon 10). For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), no remarkable difference for genotype distributions and allele frequencies was observed between BC group and control group in the study.

The genotypes of A/C in XPC exon 15, T/C in XRCC3 exon 7 and A/A in XPD exon 10 studied were significantly different between BC group and control group in Chinese population.