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乳腺浸润性导管癌及转移中 和 基因启动子甲基化的评估

Assessment of and Gene Promoter Methylation in Breast Invasive Ductal Carcinoma and Metastasis.

作者信息

Ghalkhani Esmat, Akbari Mohammad Taghi, Izadi Pantea, Mahmoodzadeh Habibollah, Kamali Fatemeh

机构信息

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran. Email:

出版信息

Cell J. 2021 Sep;23(4):397-405. doi: 10.22074/cellj.2021.7251. Epub 2021 Aug 29.

Abstract

OBJECTIVE

Metastasis might be latent or occur several years after primary tumor removal. Currently used methods for detection of distant metastasis have still some limitations. Blood tests may improve sensitivity and specificity of currently used screening procedures. The present study was designed to investigate promoter methylation status of and genes in plasma circulating free DNA (cfDNA) samples in Iranian invasive ductal carcinoma (IDC) patients. We also investigated association of two gene promoter methylations with breast cancer (BC) and metastatic BC was also assessed.

MATERIALS AND METHODS

In this case-control study, MethySYBR assay was performed to determine and promoter methylation status in breast IDC from 90 patients and 30 controls. Based on clinicopathological information, patient samples subdivided into stage I, II/III and IV groups (each group contained 30 individuals).

RESULTS

According to the results an increased promoter methylation level of the gene in BC patients was observed. It was found that as disease progressed, the percentage of methylation was changed while it was not significant. Methylation changes in metastatic and non-metastatic BC revealed that methylation levels were significantly increased in metastatic than non-metastatic group. Analysis revealed that promoter methylation of gene in BC patients was significantly increased. The observed methylation changes from less to more invasive stages were not significant in the gene. Moreover, promoter methylation was changed in metastatic rather than non-metastatic condition, although it was not significant.

CONCLUSION

Promoter hypermethylation of c and genes in plasma are associated with the risk of BC and they can be potential diagnostic biomarkers along with current methods. Additionally, association of aberrant promoter methylation with metastasis suggests its potential usage as a non-invasive strategy for metastatic BC diagnosis.

摘要

目的

转移可能是潜伏性的,或者在原发性肿瘤切除数年后发生。目前用于检测远处转移的方法仍存在一些局限性。血液检测可能会提高当前使用的筛查程序的敏感性和特异性。本研究旨在调查伊朗浸润性导管癌(IDC)患者血浆循环游离DNA(cfDNA)样本中 和 基因的启动子甲基化状态。我们还研究了这两个基因启动子甲基化与乳腺癌(BC)的关联,并对转移性BC进行了评估。

材料与方法

在这项病例对照研究中,采用甲基化SYBR检测法来确定90例患者和30例对照的乳腺IDC中 和 启动子的甲基化状态。根据临床病理信息,将患者样本分为I期、II/III期和IV期组(每组30人)。

结果

根据结果,观察到BC患者中 基因的启动子甲基化水平升高。发现随着疾病进展,甲基化百分比发生变化,但不显著。转移性和非转移性BC的甲基化变化显示,转移性组的甲基化水平显著高于非转移性组。分析显示,BC患者中 基因的启动子甲基化显著增加。在 基因中,从侵袭性较小到侵袭性较大阶段观察到的甲基化变化不显著。此外,启动子甲基化在转移性而非非转移性情况下发生变化,尽管不显著。

结论

血浆中 和 基因的启动子高甲基化与BC风险相关,它们与当前方法一起可作为潜在的诊断生物标志物。此外,异常的 启动子甲基化与转移的关联表明其作为转移性BC诊断的非侵入性策略的潜在用途。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a71/8405083/83781f979108/Cell-J-23-397-g01.jpg

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