Association of genetic polymorphisms of EXO1 gene with risk of breast cancer in Taiwan.

UNLABELLED The aim of the present study was to evaluate the association between the polymorphisms of the EXO1 gene and the risk of breast cancer in central Taiwan. PATIENTS AND METHODS In this hospital-based study, the association of EXO1 A1419G (rs3754093), C908G (rs10802996), A238G (rs1776177), C498T (rs1635517), K589E (rs1047840), G670E (rs1776148), C723R (rs1635498), L757P (rs9350) and C3114T (rs851797) polymorphisms with breast cancer risk in a central Taiwanese population was investigated. In total, 1,272 patients with breast cancer and 1,272 age- and gender-matched healthy controls recruited from the China Medical University Hospital were genotyped. RESULTS A significantly different distribution was found in the frequency of the EXO1 K589E genotype, but not the other genotypes, between the breast cancer and control groups. The A allele EXO1 K589E conferred a significantly (p=0.000025) increased risk of breast cancer. As for the rest of the polymorphisms, there was no difference in distribution between the breast cancer and control groups. CONCLUSION Our results provide evidence that the A allele of EXO1 K589E may be associated with the development of breast cancer and may be a useful biomarker for breast cancer detection and primary prevention.