A new single nucleotide polymorphism in XRCC4 gene is associated with breast cancer susceptibility in Taiwanese patients.

BACKGROUND

The DNA repair gene XRCC4, an important caretaker of the overall genome stability, is thought to play a major role in the human carcinogenesis. Some new and important polymorphic variants of XRCC4, at codon 247 (rs 3734091), G-1394T (rs 6869366), and Intron 7 (rs 28360317), and their association with breast cancer susceptibility was investigated in a Taiwanese population.

MATERIALS AND METHODS

In a hospital-based case-control study, 432 female patients with breast cancer and 432 age-matched healthy controls recruited from the China Medical Hospital in Central Taiwan were genotyped.

RESULTS

A significant difference in the frequency of the XRCC4 G-1394T genotype, but not the XRCC4 codon 247, or intron 7 genotypes was found between the breast cancer and control groups. Individuals with G/T or T/T at the XRCC4 G-1394T locus showed a 2.33-fold (95% confidence interval=1.37-3.98) increased risk of breast cancer compared to those with G/G. For XRCC4 codon 247 or intron 7, there was no difference in distribution between the breast cancer and control groups.

CONCLUSION

Our findings suggest that the heterozygous and homozygous T allele of the XRCC4 G-1394T may be associated with the development of breast cancer and may be a useful biomarker for anticancer prevention and intervention.