Veiga Melissa Gonzalez, Felizi Rogério Tadeu, Reis Dayane Guerino, Carelli Filho Ivo, Fernandes Cesar Eduardo, Souto Ricardo Peres do, Oliveira Emerson
Department of Gynecology, Faculty of Medicine of ABC, Santo André, SP, Brazil.
Department of Biochemistry, Faculty of Medicine of ABC, Santo André, SP, Brazil.
Rev Bras Ginecol Obstet. 2018 Nov;40(11):699-704. doi: 10.1055/s-0038-1673365. Epub 2018 Oct 18.
Epidemiological studies have shown evidence of the effect of sex hormones in the pathogenesis of breast cancer, and have suggested a relationship of the disease with variations in genes involved in estrogen synthesis and/or metabolism. The aim of the present study was to evaluate the association between the gene polymorphism (rs2740574) and the risk of developing breast cancer.
In the present case-control study, the frequency of the gene polymorphism was determined in 148 women with breast cancer and in 245 women without the disease. The DNA of the participants was extracted from plasma samples, and the gene was amplified by polymerase chain reaction. The presence of the polymorphism was determined using restriction enzymes.
After adjusting for confounding variables, we have found that the polymorphism was not associated with the occurrence of breast cancer (odds ratio = 1.151; 95% confidence interval: 0.714-1.856; = 0.564). We have also found no association with the presence of hormone receptors, with human epidermal growth factor receptor 2 (HER2) overexpression, or with the rate of tumor cell proliferation.
We have not observed a relationship between the gene polymorphism and the occurrence of breast cancer.
流行病学研究已证实性激素在乳腺癌发病机制中的作用，并提示该疾病与雌激素合成和/或代谢相关基因的变异有关。本研究的目的是评估[具体基因名称]基因多态性（rs2740574）与患乳腺癌风险之间的关联。
在本病例对照研究中，测定了148例乳腺癌女性患者和245例未患该疾病女性的[具体基因名称]基因多态性频率。从血浆样本中提取参与者的DNA，并通过聚合酶链反应扩增该基因。使用限制性酶确定多态性的存在。
在对混杂变量进行校正后，我们发现该多态性与乳腺癌的发生无关（优势比 = 1.151；95%置信区间：0.714 - 1.856；P = 0.564）。我们还发现其与激素受体的存在、人表皮生长因子受体2（HER2）过表达或肿瘤细胞增殖率均无关联。
我们未观察到[具体基因名称]基因多态性与乳腺癌发生之间的关系。
