乳腺癌相关基因异常甲基化与临床病理特征的关联研究
投稿时间:2016-03-17  修订日期:2016-04-11  点此下载全文
引用本文:吴亮,王建明.乳腺癌相关基因异常甲基化与临床病理特征的关联研究[J].医学研究杂志,2016,45(11):82-86
DOI: 10.11969/j.issn.1673-548X.2016.11.021
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作者单位E-mail
吴亮 211166 南京医科大学公共卫生学院流行病学系  
王建明 211166 南京医科大学公共卫生学院流行病学系 jmwang@njmu.edu.cn 
基金项目:江苏省重点研发计划-社会发展项目(BE2015694);江苏省高校自然科学研究重大项目(12KJA330001)
中文摘要:目的 探讨基因异常甲基化与乳腺癌临床病理特征的关联。方法 共纳入70例临床确诊的乳腺癌患者为病例组,采用甲基化特异性PCR法检测BRCA1、GSTP1、p16、MGMT、PTEN、RARβ2和CCND2等抑癌基因启动子区甲基化状态,分析不同临床特征的患者甲基化频率间的差异。结果 BRCA1、GSTP1、p16、MGMT、PTEN、RARβ2和CCND2的甲基化率分别为24.3%、31.4%、40.0%、27.1%、48.6%、55.7%和67.1%。94.3%的乳腺癌患者至少有1个基因发生甲基化,发生淋巴结转移的患者BRCA1甲基化率高于无淋巴结转移者,p16和PTEN基因甲基化与绝经状态有关,ER阴性、PR阴性、p53阳性患者更易发生RARβ2基因甲基化。结论 乳腺癌组织中抑癌基因异常甲基化与淋巴结转移、绝经状态、激素受体表达等临床病理特征有关。
中文关键词:乳腺癌  甲基化
 
Study on the Correlation between Abnormal DNA Methylation and Clinical Features of Breast Cancer
Abstract:Objective To investigate the association between abnormal methylation of breast cancer-related genes and the clinical characteristics. Methods We recruited 70 breast cancer cases and detected the promoter methylation status of BRCA1, GSTP1, p16, MGMT, PTEN,RARβ2 and CCND2 using the methylation specific PCR. The relation between clinical characteristics of the patients and methylation frequency of selected genes was analyzed. Results The frequency of methylation in the promoter of BRCA1、GSTP1、p16、MGMT、PTEN、RARβ and CCND2 was 24.3%, 31.4%, 40.0%, 27.1%, 48.6%, 55.7% and 67.1%, respectively. 94.3% cancer samples had at least one gene having been methylated. Patients with lymph node metastasis had higher frequency of BRCA1 methylation. Methylation of P16 and PTEN gene was related to the menopausal status. Patients with ER-, PR- and p53+ were more likely to have methylated RARβ2. Conclusion Hypermethylation of breast cancer-related genes is associated with clinical pathological features of breast cancer, such as lymph node metastasis, menopausal status or the expression of ER, PR and p53.
keywords:Breast cancer  Hypermethylation
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