Mardi Amirhossein, Ghovahi Ali, Abbasvandi Fereshteh, Amani Davar
Department of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
ATMP Department, Breast Cancer Research Center, Motamed Cancer Institute, ACECR, P.O. BOX: 15179/64311, Tehran, Iran.
Biochem Genet. 2025 Mar 10. doi: 10.1007/s10528-025-11057-8.
Breast cancer is the most common invasive cancer diagnosed in females and is also the main cause of cancer-related deaths leading to more than 500,000 deaths annually. The present study aims to identify a promising panel of microRNAs (miRNAs) using bioinformatics analysis, and to clinically validate their utility for diagnosing breast cancer patients with high accuracy in a clinical setting. First, in the in silico phase of our study, using bioinformatics analysis and the data available in the GEO database, miRNAs that were increased in the interstitial fluid of the tumor tissues (differentially expressed miRNAs), were screened and their related target genes were selected. Multimir package of R software was utilized to determine the target genes of the differentially expressed miRNAs (DEMs). The biological functions of discovered genes were analyzed using Gene Ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis. In order to determine the molecular mechanisms behind important signaling pathways and cellular functions, the protein-protein interaction network was built using STRING and Cytoscape software. After that, in the laboratory phase, the expression level of three candidate miRNAs on the serum samples of 26 breast cancer patients and 26 control, as well as 14 tumor tissue samples and 14 adjacent normal tissue samples, has been investigated by Real-time PCR method. Then sensitivity and specificity of candidate miRNAs were evaluated through the ROC curve analysis. After in silico analysis, we revealed that three miRNAs including miR-4443, miR-572, and miR-150-5p were highly increased in the interstitial fluid of breast cancer patients compared to breast cancer tissues. Moreover, our results revealed that the expression level of miR-4443, miR-572, and miR-150-5p were significantly decreased in the serum of breast cancer patients compare to normal controls. Also, the expression level of miR-4443 and miR-150-5p was significantly decreased in the tumor tissue compared to the adjacent non-tumor tissue. Also, ROC curve analysis showed that these three miRNAs have high sensitivity and specificity for the diagnosis of breast cancer patients. Data analysis was conducted with GraphPad Prism software. Our findings suggest the potential utility of measuring tumor-derived miRNAs in serum as an important approach for the blood-based detection of breast cancer patients. It appears that miR-4443, miR-572, and miR-150-5p may serve as promising diagnostic biomarkers with high sensitivity and specificity. However, it's important to note that further research will be needed to definitively establish the use of these miRNAs as potential biomarkers in clinical practice.
乳腺癌是女性中诊断出的最常见的浸润性癌症,也是癌症相关死亡的主要原因,每年导致超过50万人死亡。本研究旨在通过生物信息学分析确定一组有前景的微小RNA(miRNA),并在临床环境中对其在高精度诊断乳腺癌患者中的效用进行临床验证。首先,在我们研究的计算机模拟阶段,利用生物信息学分析和基因表达综合数据库(GEO数据库)中的可用数据,筛选出在肿瘤组织间质液中增加的miRNA(差异表达miRNA),并选择其相关靶基因。利用R软件的Multimir软件包来确定差异表达miRNA(DEM)的靶基因。使用基因本体论(GO)分析和京都基因与基因组百科全书(KEGG)通路分析来分析发现基因的生物学功能。为了确定重要信号通路和细胞功能背后的分子机制,使用STRING和Cytoscape软件构建蛋白质-蛋白质相互作用网络。之后,在实验室阶段,通过实时荧光定量PCR方法研究了26例乳腺癌患者和26例对照的血清样本以及14例肿瘤组织样本和14例相邻正常组织样本中三种候选miRNA的表达水平。然后通过受试者工作特征(ROC)曲线分析评估候选miRNA的敏感性和特异性。经过计算机模拟分析,我们发现与乳腺癌组织相比,miR-4443、miR-572和miR-150-5p这三种miRNA在乳腺癌患者的间质液中高度增加。此外,我们的结果显示,与正常对照相比,miR-4443、miR-572和miR-150-5p在乳腺癌患者血清中的表达水平显著降低。而且,与相邻非肿瘤组织相比,miR-4443和miR-150-5p在肿瘤组织中的表达水平也显著降低。此外,ROC曲线分析表明,这三种miRNA对乳腺癌患者的诊断具有高敏感性和特异性。数据分析使用GraphPad Prism软件进行。我们的研究结果表明,测量血清中肿瘤来源的miRNA作为基于血液检测乳腺癌患者的重要方法具有潜在效用。似乎miR-4443、miR-572和miR-150-5p可能作为具有高敏感性和特异性的有前景的诊断生物标志物。然而,需要注意的是,需要进一步研究以最终确定这些miRNA在临床实践中作为潜在生物标志物的用途。