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首页> 外文期刊>Balkan journal of medical genetics: BJMG >ASSOCIATION OF E-SELECTIN S128R POLYMORPHISM WITH HEREDITARY BREAST CARCINOMA SUSCEPTIBILITY IN TURKISH PATIENTS WITHOUT BRCA1/2 GERMLINE MUTATIONS
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ASSOCIATION OF E-SELECTIN S128R POLYMORPHISM WITH HEREDITARY BREAST CARCINOMA SUSCEPTIBILITY IN TURKISH PATIENTS WITHOUT BRCA1/2 GERMLINE MUTATIONS

机译：在没有BRCA1 / 2种系突变的土耳其患者中与遗传性乳腺癌敏感性的E-选择素S128R多态性的关联

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Inherited genetic factors play an important role in breast cancer susceptibility. The BRCA1 and BRCA2 mutations are the most well-known genetic factors associated with increased risk of breast cancer. E-selectin is a cell surface glycoprotein and its serum levels are known to increase in various cancers. The present retrospective study aimed to evaluate whether E-selectin S128R polymorphism (NG_012124.1: g.7161A>C, NM_000450.2: c.445A>C, NP_000441.2: p.Ser149Arg), which is known to have a role in cancer risk, is associated with breast cancer susceptibility in BRCA1/2 mutation non carriers with breast cancer. The study included 90 patients with breast cancer and 270 healthy controls. All breast cancer patients were screened for BRCA1/2 mutations and confirmed to be BRCA 1/2 mutation non carriers before inclusion in the study. Genotyping for the E-selectin S128R polymorphism was performed using real-time polymerase chain reaction (PCR) analysis. The frequencies of the AA, AC and CC genotypes were 70.0, 25.5 and 4.5%, respectively, in the patient group and 79.25, 19.25 and 1.5%, respectively, in the controls. The frequencies of A and C alleles were 84.8 and 15.2% in the patient group, respectively, and 88.9 and 11.1%. respectively, in the controls. No significant differences were determined in the genotype and allele frequencies of the E-selectin S128R polymorphism between the patient and control groups (p = 0.095). The S128R (A/C) polymorphism was not found to be associated with an increased risk of breast cancer [odds ratio (OR) = 0.69; 95% confidence interval (95% CI): 0.43-1.10; p = 0.1248). There was no association between the S128R polymorphism and breast cancer susceptibility in BRCA1/2 mutation non carriers with breast cancer in the studied Turkish population. Further studies with larger sample sizes are needed to validate our findings.
机译：遗传遗传因素在乳腺癌易感性中发挥着重要作用。 BRCA1和BRCA2突变是与乳腺癌风险增加相关的最着名的遗传因素。 E-SELETIN是一种细胞表面糖蛋白，并且已知其血清水平在各种癌症中增加。本发明的回顾性研究旨在评估E-选择蛋白S128R多态性（NG_012124.1：G.7161A> C，NM_000450.2：C.445A> C，NP_000441.2：P.SER149ARG），该研究是具有作用的作用在癌症风险中，与BRCA1 / 2突变不载体的乳腺癌敏感性有关，患有乳腺癌。该研究包括90例乳腺癌和270例健康对照。筛选所有乳腺癌患者对BRCA1 / 2突变进行筛选，并在纳入研究之前确认是BRCA 1/2突变无载体。使用实时聚合酶链反应（PCR）分析进行E-Selectin S128R多态性的基因分型。 AA，Ac和CC基因型的频率分别在对照中分别在患者组和79.25,19.25和1.5％中分别为70.0,25.5和4.5％。患者组A和C等位基因的频率分别为84.8和15.2％，88.9和11.1％。分别在控制中。在患者和对照组之间的E-Selectin S128R多态性的基因型和等位基因频率中没有确定显着差异（P = 0.095）。没有发现S128R（A / C）多态性与乳腺癌的风险增加[赔率比（或）= 0.69; 95％置信区间（95％CI）：0.43-1.10; p = 0.1248）。在学习的土耳其人群中，BRCA1 / 2突变非载体的S128R多态性和乳腺癌敏感性之间没有关联。需要进一步的样本尺寸的研究来验证我们的研究结果。

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