乳腺癌中DNA修复基因的多态性
Polymorphism of DNA repair genes in breast cancer.
作者信息
Smolarz Beata, Michalska Magdalena M, Samulak Dariusz, Romanowicz Hanna, Wójcik Luiza
机构信息
Laboratory of Cancer Genetics, Department of Clinical Pathology, Polish Mothers' Memorial Hospital-Research Institute, Lodz, Poland.
Department of Obstetrics and Gynaecology, Regional Hospital in Kalisz, Poland.
出版信息
Oncotarget. 2019 Jan 11;10(4):527-535. doi: 10.18632/oncotarget.26568.
AIM
The aim of the study was to determine the relationship between single nucleotide polymorphisms (SNPs) of DNA repair genes and modulation of the risk of breast cancer. The following SNPs were analysed: XRCC1-Arg399Gln (rs25487), hMSH2-Gly322Asp (rs4987188), -Arg188His (rs3218536), - Lys751Gln (rs13181), --4719A/T (rs2619679) and --4601A/G (rs5030789).
MATERIAL AND METHODS
The study included = 600 patients: 300 with breast cancer and 300 healthy controls. The HRM (High-Resolution Melter) technique was applied for polymorphism analysis. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each genotype and allele.
RESULTS
Statistically significant correlations were identified between four single nucleotide polymorphisms and the breast cancer risk: -Arg399Gln, -Gly322Asp, - Lys751Gln and --4719A/T. Allele XRCC1-Gln (OR 6.37; 95% CI 4.86-8.35, < .0001), -Asp (OR 4.41; 95% CI 3.43-5.67, < .0001), XPD -Gln (OR 2.56; 95% CI 2.02-3.25, < .0001) and -T genes (OR 1.44; 95% CI 1.15-1.80, = 0.002) strongly correlated with breast carcinoma. No relationship was observed between the studied polymorphisms and the cancer progression grade according to Scarf-Bloom-Richardson classification.
CONCLUSIONS
The results implies that polymorphisms of DNA repair genes may be associated with breast cancer occurrence.
目的
本研究旨在确定DNA修复基因的单核苷酸多态性（SNP）与乳腺癌风险调控之间的关系。分析了以下SNP：XRCC1-Arg399Gln（rs25487）、hMSH2-Gly322Asp（rs4987188）、-Arg188His（rs3218536）、-Lys751Gln（rs13181）、--4719A/T（rs2619679）和--4601A/G（rs5030789）。
材料与方法
本研究纳入600例患者：300例乳腺癌患者和300例健康对照。采用高分辨率熔解曲线（HRM）技术进行多态性分析。计算每种基因型和等位基因的比值比（OR）和95%置信区间（CI）。
结果
在4个单核苷酸多态性与乳腺癌风险之间发现了具有统计学意义的相关性：-Arg399Gln、-Gly322Asp、-Lys751Gln和--4719A/T。等位基因XRCC1-Gln（OR 6.37；95%CI 4.86-8.35，P<0.0001）、-Asp（OR 4.41；95%CI 3.43-5.67，P<0.0001）、XPD -Gln（OR 2.56；95%CI 2.02-3.25，P<0.0001）和-T基因（OR 1.44；95%CI 1.15-1.80，P = 0.002）与乳腺癌密切相关。根据斯卡夫-布卢姆-理查森分类法，未观察到所研究的多态性与癌症进展分级之间的关系。
结论
结果表明DNA修复基因的多态性可能与乳腺癌的发生有关。
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