雌激素受体基因多态性与三阴性乳腺癌临床病理特征的相关性研究

The correlation between estrogen receptor gene polymorphism and clinicopathological features of triple negative breast cancer

目的探讨雌激素受体基因(ESR1)多态性(SNP)与三阴性乳腺癌(TNBC)易感性相关性及临床病理特征的关系。方法收集2014-2016年新疆医科大学附属肿瘤医院乳腺头颈外科收治并经外科手术病理证实的乳腺病例68例,运用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)分析的方法检测34例中国汉族女性三阴性乳腺癌患者(病例组)和34名良性肿瘤或健康女性对照者(对照组)ESR1基因上RS2077647位点的基因型,以SPSS 17.0软件分析数据。结果RS2077647位点等位基因频率符合Hardy-Weinberg遗传平衡定律;RS2077647位点的等位基因及基因型频率与患者腋窝淋巴结转移及组织学分级高表达相关,不同年龄段、肿瘤大小、临床分期、Ki-67指数及是否存在远处转移组间RS2077647的等位基因和基因型的频率变化差异无统计学意义(P>0.05);病例组和对照组RS2077647位点等位基因及基因型频率分布差异无统计学意义(P>0.05)。结论RS2077647位点基因多态性可能与三阴性乳腺癌遗传易感性无相关。

Objective To investigate the relationship between estrogen receptor gene(ESR1)polymorphism(SNP)and susceptibility to triple negative breast cancer(TNBC)and clinicopathological features.Methods The clinical data of 68 cases with breast cancer were collected from the department of head and neck and breast surgery in the Affiliated Tumor Hospital of Xinjiang Medical University The genotype of RS2077647 locus of ESR1 gene was detected by polymerase chain reaction(PCR)and restriction fragment length polymorphism(RFLP)in 34 Chinese Han female patients with triple negative breast cancer and 34 healthy female control.SPSS 17.0 software were used to the data.The polymerase chain reaction(PCR)and restriction fragment length polymorphism(RFLP)analysis method in 34 cases of Han women China triple breast cancer patients and 34 benign tumors or healthy female controls ESR1 gene RS2077647 site genotype analysis data with SPSS 17.0 software.Results The RS2077647 allele frequency in accordance with Hardy-Weinberg law of genetic equilibrium;RS2077647 allele and genotype in patients with axillary lymph node metastasis and high histological grade was closely related to the differences in the frequency variation.Grouping by age,tumor size,clinical stage Ki-67 index,existence of distant metastasis,the RS2077647 allele frequency and genotype in different groups had not been found to have significant difference(P >0.05);The distribution of RS2077647 alleles and genotype frequencies in the population of triple negative breast cancer and normal controls were no significant difference(P >0.05).Conclusion The RS2077647 locus gene polymorphism is related to the axillary lymph node metastasis and histological grading of the triple negative breast cancer patients,which is not related to the genetic susceptibility of the three negative breast cancer.