title: Nucleotide excision repair pathway gene polymorphisms are linked to breast cancer risk in a Chinese population.
abstract: 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.
authors: General Clinical Research Center, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.
authors: Bang-Shun
authors: BS
authors: He
authors: General Clinical Research Center, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.
authors: Tao
authors: T
authors: Xu
authors: General Clinical Research Center, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.
authors: Yu-Qin
authors: YQ
authors: Pan
authors: Department of General Surgery, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.
authors: Han-Jin
authors: HJ
authors: Wang
authors: Department of Clinical Oncology, Queen Elizabeth Hospital, Hong Kong, China.
authors: William C
authors: WC
authors: Cho
authors: General Clinical Research Center, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.
authors: Kang
authors: K
authors: Lin
authors: General Clinical Research Center, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.
authors: Hui-Ling
authors: HL
authors: Sun
authors: Department of Laboratory Medicine, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.
authors: Tian-Yi
authors: TY
authors: Gao
authors: General Clinical Research Center, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.
authors: Shu-Kui
authors: SK
authors: Wang
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D004720:Endonucleases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008207:Lymphatic Metastasis; D008593:Menopause / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000378:metabolism; D011960:Receptors, Estrogen / Q000378:metabolism; D011980:Receptors, Progesterone / Q000378:metabolism; D012306:Risk; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D004720:Endonucleases; D018719:Erb-b2 Receptor Tyrosine Kinases; D011960:Receptors, Estrogen; D011980:Receptors, Progesterone; D051759:Xeroderma Pigmentosum Group D Protein; C086984:XPC protein, human; C508053:ERBB2 protein, human; C071447:ERCC1 protein, human; C497292:ERCC2 protein, human
keywords: Chinese females; association study; breast cancer; nucleotide excision repair (NER) pathway; polymorphism