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土耳其特拉凯地区携带BRCA1或BRCA2致病变异的患者中基因多态性与乳腺癌发生及转移风险关系的研究

Investigation of The Relationship of Gene Polymorphisms with Breast Cancer Development and Metastasis Risk in Patients with Or Pathogenic Variants Living in The Trakya Region of Turkey.

作者信息

Özdemir K, Gürkan H, Demir S, Atli E, Özen Y, Sezer A, Tunçbilek N, Çicin I

机构信息

Department of Medical Genetics, Genetic Diseases Diagnosis Center, Trakya University Faculty of Medicine, Edirne, Turkey.

Department of General Surgery, Faculty of Medicine, Trakya University, Edirne, Turkey.

出版信息

Balkan J Med Genet. 2021 Mar 23;23(2):49-58. doi: 10.2478/bjmg-2020-0016. eCollection 2020 Nov.

Abstract

Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of or . Therefore, it has been suggested that , which is among those modifying genes present in breast cancer development, may have a significant role in patients with positive or variations. In our study, we investigated the probable effects of single nucleotide polymorphisms (SNPs) in the gene, such as rs4485469, rs9646629, rs34739845, rs17069904, rs 884205, rs4941129 on the risk of breast cancer in patients with or variations. A total of 23 breast cancer patients with pathogenic variations in the or genes, 28 patients with no pathogenic variations in the or genes, and 55 healthy women as a control group, were included in this study. The SNPs were determined with allelic discrimination analysis through the real-time polymerase chain reaction (qPCR) method. There was no statistically significant difference between the SNPs of the gene rs4485469, rs9646629, rs34739845, rs17069904, rs884205, rs4941129 and metastasis, estrogen receptor, progesterone receptor and CerB2 receptor positivity between patient and control group ( >0.05). However, the rs4485469 SNP was found to be borderline significant between the patient groups with and without or mutations ( = 0.059). In patients with or pathogenic variations living in the Trakya region of Turkey, we could not determine the relationship between SNPs with breast cancer risk.

摘要

修饰基因在携带 或 致病变异的女性乳腺癌发生风险的遗传调控中发挥着独特作用。因此,有人提出,作为乳腺癌发生过程中存在的修饰基因之一, 在 或 变异阳性的患者中可能具有重要作用。在我们的研究中,我们调查了 基因中的单核苷酸多态性(SNP),如rs4485469、rs9646629、rs34739845、rs17069904、rs884205、rs4941129对携带 或 变异的患者患乳腺癌风险的可能影响。本研究共纳入23例 或 基因有致病变异的乳腺癌患者、28例 或 基因无致病变异的患者以及55名健康女性作为对照组。通过实时聚合酶链反应(qPCR)方法,采用等位基因鉴别分析确定SNP。患者组和对照组之间, 基因rs4485469、rs9646629、rs34739845、rs17069904、rs884205、rs4941129的SNP与转移、雌激素受体、孕激素受体和CerB2受体阳性之间无统计学显著差异(>0.05)。然而,rs4485469 SNP在有和无 或 突变的患者组之间被发现具有临界显著性( = 0.059)。在生活在土耳其特拉凯地区、携带 或 致病变异的患者中,我们无法确定 基因SNP与乳腺癌风险之间的关系。

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