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乳腺癌中DNA修复基因的遗传变异

Genetic Variations of DNA Repair Genes in Breast Cancer.

作者信息

Özgöz Asuman, Hekimler Öztürk Kuyaş, Yükseltürk Ayşegül, Şamlı Hale, Başkan Zuhal, Mutlu İçduygu Fadime, Bacaksız Mehmet

机构信息

Kastamonu School of Medicine, Department of Medical Genetics, Kastamonu University, Kuzeykent Mah, Orgeneral Atilla Ateş Paşa Cd. No: 19 C, 37200, Kastamonu, Turkey.

School of Medicine, Department of Medical Genetics, Süleyman Demirel University, Isparta, Turkey.

出版信息

Pathol Oncol Res. 2019 Jan;25(1):107-114. doi: 10.1007/s12253-017-0322-3. Epub 2017 Oct 5.

Abstract

Genetic variations in DNA repair genes may affect DNA repair capacity therefore increase risk for cancer. In our study, we evaluted the relation between DNA repair gene polymorphisms XRCC1 rs1799782, rs25487, rs25489; XPC rs2228000, rs2228001; XPD rs1799793, rs13181; XRCC3 rs861539; RAD51B rs10483813, rs1314913 and breast cancer risk for 202 Turkish cases in total, in which 102 patients with breast cancer and 100 controls. Genotyping of the DNA samples was carried out by multiplex PCR and matrix-assisted laser desorption/ionization mass spectrometry with time of flight measurement (MALDI-TOF) using Sequenom MassARRAY 4 analyzer. Genotype and allele distributions were calculated between the groups. Odds ratios (ORs) and 95% confidence intervals (CIs) were reported. rs25487 AA genotype and A allele was found to be increased in the control group (respectively, OR 0.16 95% CI 0.02-1.06, p = 0.058; OR 1.55, 95% CI 1.01-2.36, p = 0.043) and rs861539 T allele was found to be decreased in the patient group (OR 1.53, 95% CI 1.01-2.30, p = 0.049). No association with breast cancer was found for the remaining SNPs. Our findings suggest that XRCC1 rs25487 AA genotype and A allele, XRCC3 rs861539 T allele may have protective effects in breast cancer for Turkish population.

摘要

DNA修复基因中的遗传变异可能会影响DNA修复能力,从而增加患癌风险。在我们的研究中,我们评估了DNA修复基因多态性XRCC1 rs1799782、rs25487、rs25489;XPC rs2228000、rs2228001;XPD rs1799793、rs13181;XRCC3 rs861539;RAD51B rs10483813、rs1314913与202例土耳其病例乳腺癌风险之间的关系,其中102例为乳腺癌患者,100例为对照。使用Sequenom MassARRAY 4分析仪,通过多重PCR和基质辅助激光解吸/电离飞行时间质谱(MALDI-TOF)对DNA样本进行基因分型。计算了两组之间的基因型和等位基因分布。报告了比值比(OR)和95%置信区间(CI)。发现对照组中rs25487 AA基因型和A等位基因增加(分别为OR 0.16,95%CI 0.02-1.06,p = 0.058;OR 1.55,95%CI 1.01-2.36,p = 0.043),患者组中rs861539 T等位基因减少(OR 1.53,95%CI 1.01-2.30,p = 0.049)。其余单核苷酸多态性未发现与乳腺癌有关联。我们的研究结果表明,XRCC1 rs25487 AA基因型和A等位基因、XRCC3 rs861539 T等位基因可能对土耳其人群的乳腺癌具有保护作用。

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