The Association Of DNA Repair Gene XRCC1 Polymorphisms With Clinicopathologic Characteristics In Chinese Women Breast Cancer

ObjectiveBreast cancer is the most frequent malignancy among women in China. Studies suggest genetic is involved in the tumorigenesis of breast cancer. Identifying factors in relation to breast cancer survival may have a great impact on the treatment for this disease. X- ray repair cross complementing group1(XRCC1) is an important DNA repair gene. Two XRCC1 polymorphisms, Arg194Trp in exon 6 and Arg399Gln in exon 10, lie in the important region of XRCC1 protein. So, their changes may alter protein function and result in decreasing the efficacy of DNA repair. They may contribute to differences in the susceptibility and biological heterogeneity of several cancers. Therefore, the purpose of this study was to investigate the correlation of the polymorphisms in DNA repair gene XRCC1 (Arg194Trp and Arg399Gln) with clinicopathologic characteristics in Chinese women with breast cancer.MethodsThe polymorphisms of XRCC1 were detected by using PCR-restriction fragment length polymorphisms assay (PCR-RFLP) in 250 Chinese women with primary breast cancer. The correlation between the XRCC1 polymorphisms and clinicopathologic characteristics was tested by using Pearsonχ2 test.Results1. The polymorphisms of XRCC1 were not significantly associated with clinical stage, tumor size, axillary lymph node involvement or estrogen receptor status, or menopausal status (P>0.05).2. The polymorphism of Arg194Trp was significantly associated with progesterone receptor (progesterone receptor, PR) status. Patients with mutant homozygous 194 genotype were more likely than patients with the wild homozygous or heterozygous genotypes to have PR-negative tumors (81.0% vs 55.4%, P=0.034).3. The polymorphism of Arg399Gln was significantly associated with erbB2 overexpression. Patients with the mutant homozygous 399 genotype had a higher erbB2 overexpression in the tumors than did patients with the wild homozygous or heterozygous genotypes (61.1% vs 29.3%, P=0.006).Conclusions1. The association of Arg194Trp polymorphism with PR-negative breast cancers indicates that Arg194Trp polymorphism may have potential clinical implications.2. The association of Arg399Gln polymorphism with erbB2-overexpression breast cancers indicates that Arg399Gln polymorphism may have potential clinical implications.