Nucleotide excision repair pathway gene polymorphisms are linked to breast cancer risk in a Chinese population.
Nucleotide excision repair pathway gene polymorphisms are linked to breast cancer risk in a Chinese population.
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DOI：
10.18632/oncotarget.12744
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发表时间：
2016-12-20
期刊：
影响因子：
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通讯作者：
Wang SK
中科院分区：
文献类型：
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作者：
He BS;Xu T;Pan YQ;Wang HJ;Cho WC;Lin K;Sun HL;Gao TY;Wang SK
核苷酸切除修复（NER）途径基因的多态性与乳腺癌风险相关，但这些关联的相关性似乎根据受试者的种族而有所不同。为了系统评估中国人群中 NER 多态性与乳腺癌风险之间的潜在关联，我们对 450 名乳腺癌患者和 430 名健康对照者进行了病例对照研究。采用Sequenom MassARRAY进行基因分型，并采用免疫组化检测肿瘤组织中雌激素受体（ER）、孕激素受体（PR）和人表皮生长因子受体2（HER-2）的表达情况。我们的结果显示，ERCC1 rs11615（加法模型：OR调整：1.36，95% CI：1.08-1.71，p = 0.009）、XPC rs2228000（加法模型：OR调整：1.39，95% CI：1.13-1.72，p = 0.002）和ERCC2/XPD rs50872（相加模型：OR 调整后：1.32，95% CI：1.04-1.67，p = 0.021）与乳腺癌风险增加相关。分层分析揭示了三种多态性（rs11615、rs1800975 和 rs50872）与绝经期女性乳腺癌相关。三种多态性与特定乳腺癌等级相关（rs11615 与 3 级、rs2228000 和 rs50872 与 1-2 级）。两种多态性（rs2228001 和 rs50872）与淋巴结阴性受累乳腺癌的风险相关。 rs1800975和rs50872与ER−和PR−乳腺癌的风险相关，而rs11615与ER+和PR+乳腺癌的风险相关。我们发现，ERCC1 rs11615、XPC rs2228000 和 rs50872 的 T 等位基因携带者，尤其是绝经后女性，患乳腺癌的风险增加。
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.