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乳腺癌中BRCA1和APC的甲基化分析及其与临床病理特征的关系

Methylation Analysis of BRCA1 and APC in Breast Cancer and It's Relationship to Clinicopathological Features.

作者信息

Shakeri Halaleh, Fakhrjou Ashraf, Nikanfar Alireza, Mohaddes-Ardebili Seyyed M

出版信息

Clin Lab. 2016 Dec 1;62(12):2333-2337. doi: 10.7754/Clin.Lab.2016.160418.

Abstract

BACKGROUND

Promoter methylation of tumor suppressor genes is an important epigenetic alteration that occurs in the primary stages of human tumors, including breast cancer. Identification of methylated genes and their relationship to clinical features can contribute to the prognosis and early detection of tumors. In this study, we explored the methylation status of APC and BRCA1 genes and their relationship to clinical factors in breast cancer patients.

METHODS

BRCA1 and APC promoter methylation was examined by methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay in formalin-fixed paraffin embedded (FFPE) breast tissue from 75 patients.

RESULTS

APC promoter methylation was detected in 30.67% breast cancer tissues and BRCA1 was methylated in 9.33% of breast tumors. Methylation of APC was associated with low histological grade (p = 0.006) and methylation of BRCA1 was related with lymph node metastasis (p = 0.017).

CONCLUSIONS

These findings suggest that the methylation status of APC and BRCA1 can be a predictive marker for early detection and better management of breast cancer patients.

摘要

背景

肿瘤抑制基因的启动子甲基化是一种重要的表观遗传改变,发生在包括乳腺癌在内的人类肿瘤的早期阶段。甲基化基因的鉴定及其与临床特征的关系有助于肿瘤的预后评估和早期检测。在本研究中,我们探讨了乳腺癌患者中APC和BRCA1基因的甲基化状态及其与临床因素的关系。

方法

采用甲基化特异性多重连接依赖探针扩增(MS-MLPA)分析法检测75例患者福尔马林固定石蜡包埋(FFPE)乳腺组织中BRCA1和APC启动子的甲基化情况。

结果

在30.67%的乳腺癌组织中检测到APC启动子甲基化,在9.33%的乳腺肿瘤中检测到BRCA1甲基化。APC甲基化与低组织学分级相关(p = 0.006),BRCA1甲基化与淋巴结转移相关(p = 0.017)。

结论

这些发现表明,APC和BRCA1的甲基化状态可作为乳腺癌患者早期检测和更好管理的预测标志物。

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