Nucleotide excision repair pathway gene polymorphisms are linked to breast cancer risk in a Chinese population
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Bang-shun He1, Tao Xu1, Yu-qin Pan1, Han-jin Wang2, William C. Cho3, Kang Lin1, Hui-ling Sun1, Tian-yi Gao4, Shu-kui Wang1
1General Clinical Research Center, Nanjing First Hospital, Nanjing Medical University, Nanjing, China
2Department of General Surgery, Nanjing First Hospital, Nanjing Medical University, Nanjing, China
3Department of Clinical Oncology, Queen Elizabeth Hospital, Hong Kong, China
4Department of Laboratory Medicine, Nanjing First Hospital, Nanjing Medical University, Nanjing, China
Shu-kui Wang, email: [email protected]
Keywords: association study, breast cancer, Chinese females, nucleotide excision repair (NER) pathway, polymorphism
Received: May 26, 2016 Accepted: October 10, 2016 Published: October 19, 2016
Polymorphisms in nucleotide excision repair (NER) pathway genes are associated with the risk of breast cancer, but the relevance of these associations appeared to vary according to the ethnicity of the subjects. To systemically evaluate the potential associations between NER polymorphisms and breast cancer risk in a Chinese population, we carried out a case-control study on 450 breast cancer patients and 430 healthy controls. Sequenom MassARRAY was used for genotyping, and immunohistochemistry was performed to detect estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER-2) expression in tumor tissue. Our results showed that ERCC1 rs11615 (additive model: ORadjusted: 1.36, 95% CI: 1.08-1.71, p = 0.009), XPC rs2228000 (additive model: ORadjusted: 1.39, 95% CI: 1.13-1.72, p = 0.002) and ERCC2/XPD rs50872 (additive model: ORadjusted: 1.32, 95% CI: 1.04-1.67, p = 0.021) were associated with an increased risk of breast cancer. Stratified analysis revealed three polymorphisms (rs11615, rs1800975, and rs50872) to be associated with breast cancer in menopausal females. Three polymorphisms were associated with specific breast cancer grades (rs11615 with grade 3, rs2228000 and rs50872 with grade 1-2). Two polymorphisms (rs2228001 and rs50872) were associated with the risk of breast cancer with negative lymph node involvement. rs1800975 and rs50872 were associated with the risk of ER− and PR− breast cancer, whereas rs11615 was associated with the risk of ER+ and PR+ breast cancer. We found that carriers of the T allele of ERCC1 rs11615, XPC rs2228000 and rs50872, particularly in postmenopausal females, have an increased risk of breast cancer.
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