Alizadeh Mahdi, Salimi Mahdieh
Department of Medical Genetics, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
Avicenna J Med Biotechnol. 2025 Apr-Jun;17(2):136-146. doi: 10.18502/ajmb.v17i2.18565.
Circular RNAs (circRNAs) are important in tumorigenesis and cancer progression, highlighting their potential as biomarkers for diagnosis, prognosis, and treatment monitoring.
This study consists of experimental and phases. In the experimental phase, the expression of hsa_circ_0052112 in tumor and blood samples from 40 breast cancer women was analyzed, compared to the control group using Sybr Green real-time RT-PCR followed by total RNA extraction and cDNA synthesis. Statistical analysis was performed using the gene as a normalizer, compared to the normal control group as a fold change. In the phase, interactions among circRNA, RNA-Binding Proteins (RBPs), and microRNAs (miRNAs) were investigated using Interactome Database. The miRcancer database was utilized to assess breast cancer-related miRNAs linked to hsa_circ_0052112. Target miRNAs were identified with TargetScan and filtered for relevance through DisGeNET. K-means clustering grouped genes by expression patterns, visualized in Cytoscape to illustrate circRNA-miRNA-mRNA relationships. Hub genes underwent pathway enrichment analysis using Reactome database to determine their functional significance.
Data revealed a significant increase in hsa_circ_0052112 expression in both blood and tumour of breast cancer patients. This increase was especially pronounced in patients with estrogen, progesterone, and HER2 receptor positivity, as well as in advanced disease stages with lymph node involvement. Enrichment analysis of hub genes indicates their role in the PI3K/AKT signaling pathway.
hsa_circ_0052112 shows promise as a multifaceted biomarker for breast cancer, enhancing diagnosis and prognosis; while supporting personalized treatment strategies. Further clinical validation is necessary to confirm its utility.
环状RNA（circRNAs）在肿瘤发生和癌症进展中起重要作用，凸显了其作为诊断、预后和治疗监测生物标志物的潜力。
本研究包括实验和 阶段。在实验阶段，采用Sybr Green实时逆转录聚合酶链反应（RT-PCR）分析40例乳腺癌女性患者肿瘤和血液样本中hsa_circ_0052112的表达，并与对照组进行比较，随后进行总RNA提取和cDNA合成。以 基因为标准化物进行统计分析，与正常对照组相比计算倍数变化。在 阶段，使用相互作用组数据库研究环状RNA、RNA结合蛋白（RBPs）和微小RNA（miRNAs）之间的相互作用。利用miRcancer数据库评估与hsa_circ_0052112相关的乳腺癌相关miRNAs。通过TargetScan鉴定靶miRNAs，并通过DisGeNET筛选其相关性。K均值聚类根据表达模式对基因进行分组，在Cytoscape中可视化以说明环状RNA- miRNA- mRNA关系。利用Reactome数据库对枢纽基因进行通路富集分析以确定其功能意义。
数据显示乳腺癌患者血液和肿瘤中hsa_circ_0052112表达显著增加。这种增加在雌激素、孕激素和HER2受体阳性患者以及有淋巴结受累的晚期疾病阶段尤为明显。枢纽基因的富集分析表明它们在PI3K/AKT信号通路中的作用。
hsa_circ_0052112有望成为乳腺癌的多方面生物标志物，改善诊断和预后；同时支持个性化治疗策略。需要进一步的临床验证来证实其效用。
