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目的:探讨南京地区DNA修复基因的5个单核苷酸多态性位点(rs1800975、rs11615、rs2228000、rs2228001、rs238406)与乳腺癌的发病风险、病理特征及激素受体水平的相关性。方法 :共纳入乳腺癌病例和健康对照各350例。用Mass ARRAY时间飞行质谱技术分析5个单核苷酸位点的多态性;免疫组化方法检测雌激素受体(estrogen receptor,ER)、孕激素受体(progesterone receptor,PR)及人类表皮生长因子受体2(human epidermal growth factor receptor2,HER-2)表达水平。Logistics回归模型分析不同基因型与乳腺癌发生、病理特点和相关激素受体(ER、PR、HER-2)水平的关系。结果:rs11615TC/TT和rs2228000TT基因型与乳腺癌发病明显相关,且亚组分析提示rs1800975AA和GA基因型分别与绝经期乳腺癌、ER阴性乳腺癌发病相关。此外,rs2228000T等位基因与PR、乳腺癌HER-2阳性亚型相关,且rs11615与乳腺癌ER、PR阳性均相关。rs2228001与T3期乳腺癌、PR、HER-2阴性均相关。结论:rs2228000TT和rs11615TC/TT可增加乳腺癌患病风险。对于不同基因位点,肿瘤病理特点及ER、PR、HER-2的表达水平与乳腺癌的发生或预防有关。
Objective: To investigate the association of five single nucleotide polymorphisms (rs1800975, rs11615, rs2228000, rs2228001, rs238406) of DNA repair gene in Nanjing with the risk of developing breast cancer, pathological features and hormone receptor levels. Methods: A total of 350 breast cancer cases and healthy controls were enrolled. Five single nucleotide polymorphisms (SNPs) were analyzed by mass ARRAY time-of-flight mass spectrometry. The expressions of estrogen receptor (ER), progesterone receptor (PR) and human epidermis The expression of HER-2 in human epidermal growth factor receptor 2 (EGFR) Logistics regression model was used to analyze the relationship between different genotypes and the occurrence of breast cancer, pathological features and the levels of related hormone receptors (ER, PR, HER-2). Results: The rs11615TC / TT and rs2228000TT genotypes were significantly associated with the development of breast cancer, and subgroup analysis suggested that rs1800975AA and GA genotypes were associated with the incidence of breast cancer and ER-negative breast cancer respectively. In addition, the rs2228000T allele is associated with PR and breast cancer positive HER-2 subtypes, and rs11615 is associated with ER and PR positive in breast cancer. rs2228001 and T3 breast cancer, PR, HER-2 negative were related. Conclusion: rs2228000TT and rs11615TC / TT may increase the risk of breast cancer. For different gene loci, tumor pathological features and ER, PR, HER-2 expression levels associated with the occurrence or prevention of breast cancer.