Differential gene expression and gene ontology associated with breast cancer development and progression: A meta-analysis study

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Introduction: Breast cancer (BC) is heterogeneous and remains a major health priority. Robust biomarkers are needed to improve early detection and guide therapy. Objective: This study investigates the molecular mechanisms underlying BC development (normal versus cancer) and progression (early versus late). Methods: A meta-analysis of 51 microarray studies comparing BC and normal cells, as well as early- and late-stage BC cells, was conducted using microarray data obtained from the Gene Expression Omnibus and ArrayExpress databases. Five meta-analysis methods, each based on different statistical approaches, were applied, and the overlapping results were identified. Results: A total of 3,362 and 95 differentially expressed genes (DEGs) associated with BC development and progression were identified. Among these DEGs, the upregulation of COL10A1, COL11A1, TOP2A, CDK1, MMP11, and S100P and the downregulation of ADH1B, SFRP1, DST, LEP, ADIPOQ, and CHRDL1 were the most significantly associated with BC development. DEGs such as DHTKD1 and CBX3 (upregulated) and MAP3K20 (downregulated) were found to be among the most significantly differentially expressed in BC progression. The top gene ontology terms enriched in BC development included regulation of signaling receptor activity and cytokine-mediated signaling pathway. In addition, the cellular macromolecule biosynthetic process and response to organic substances were significantly enriched in BC progression. Conclusion: Many of the DEGs may serve as potential therapeutic targets for BC.

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