与乳腺癌诊断和预后相关的推定基因特征的鉴定。

IF 1.2 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Clinical and Investigative Medicine Pub Date : 2021-10-03 DOI:10.25011/cim.v44i3.37194
Chao Tan, Fang Zuo, Mingqian Lu, Sai Chen, Zhenzhen Tian, Yong Hu
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引用次数: 0

摘要

目的:本研究旨在确定乳腺癌(BC)发展的潜在诊断和治疗生物标志物。方法:从Gene Expression Omnibus (GEO)数据库中获取159个样本的GSE86374数据集,进行差异表达基因(differential Expression genes, DEGs)鉴定和聚类分析。通过相应的功能富集和蛋白相互作用(PPI)网络分析来鉴定枢纽基因。使用从TCGA数据库和枢纽基因获得的临床信息进行预后评估,以筛选BC进展的关键指标。建立并验证了风险模型。结果:共鉴定出186个deg,并将其分为4类:第一类96个;第2簇有69个;群集3 16个;簇4中有5个。功能富集分析显示,包括ADH1B在内的DEGs在酪氨酸和药物代谢途径中显著富集,而包括SPP1和RRM2在内的集群2基因在PI3K-Akt和p53信号通路中发挥关键作用。SPP1和RRM2作为PPI网络中的枢纽基因,使得支持向量机分类器具有良好的准确性和特异性。此外,预后分析结果显示,年龄、转移阶段、SPP1和ADH1B与BC的风险相关,通过建立的风险模型分析验证了这一点。结论:SPP1、RRM2和ADH1B在BC的发展中起重要作用。年龄和TNM分期也优先与发生BC的风险相关。风险模型的评估需要基于更大的样本量和进一步的实验验证。
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Identification Of Putative Gene Signatures Associated With Diagnosis And Prognosis Of Breast Cancer.

Purpose: This study aimed to identify potential diagnostic and therapeutic biomakers for the development of breast cancer (BC). Methods: GSE86374 dataset containing 159 samples was acquired from the Gene Expression Omnibus (GEO) database followed by differentially expressed genes (DEGs) identification and cluster analysis. Corresponding functional enrichment and protein-protein interaction (PPI) network analyses were performed to identify hub genes. Prognostic evaluation using clinical information obtained from TCGA database and hub genes was conducted to screen for crucial indicators for BC progression. The risk model was established and validated. Results: In total, 186 DEGs were identified and grouped into four clusters: 96 in cluster 1; 69 in cluster 2; 16 in cluster 3; and 5 in cluster 4. Functional enrichment analysis showed that DEGs, including ADH1B in cluster 1, were dramatically enriched in the tyrosine and drug metabolism pathways, while genes in cluster 2, including SPP1 and RRM2, played crucial roles in PI3K-Akt and p53 signalling pathway. SPP1 and RRM2 served as hub genes in the PPI network, resulting in an support vector machine classifier with good accuracy and specificity.Ad ditionally, the results of prognostic analysis suggest that age, metastasis stage, SPP1 and ADH1B were correlated with risk of BC, which was validated by using the established risk model analysis. Conclusion: SPP1, RRM2 and ADH1B appear to play vital roles in the development of BC. Age and TNM stage were also preferentially associated with risk of developing BC. Evaluation of the risk model based on larger sample size and further experimental validation are required.

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来源期刊
Clinical and Investigative Medicine
Clinical and Investigative Medicine 医学-医学:研究与实验
CiteScore
1.50
自引率
12.50%
发文量
18
审稿时长
>12 weeks
期刊介绍: Clinical and Investigative Medicine (CIM), publishes original work in the field of Clinical Investigation. Original work includes clinical or laboratory investigations and clinical reports. Reviews include information for Continuing Medical Education (CME), narrative review articles, systematic reviews, and meta-analyses.
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