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Introduction <p>Ductal carcinoma in situ (DCIS) represents the early stage of breast cancer. Involved women with DCIS have a higher risk of progressing to invasive BC. Understanding the molecular mechanisms involved in developing invasive BC from DCIS can lead to the discovery of new biomarkers and targets for effective treatment.</p> Material and methods <p>The study used gene expression data from the Gene Expression Omnibus repository to identify differentially expressed genes (DEGs) between invasive BC and DCIS specimens. Protein–protein interaction (PPI) analysis was conducted via the GeneMANIA database and Cytoscape visualized them. Receiver operating characteristic (ROC) analysis was used to assess the diagnostic accuracy of the identified hub genes as potential biomarkers.</p> Results <p>In the differential expression analysis, 164 genes were identified as differentially expressed between IBC and DCIS groups, with 54 upregulated and 110 downregulated genes. The PPI analysis resulted in a network with eight hub genes (FN1, COL1A1, COL1A2, COL3A1, COL10A1, POSTN, and COL5A2, and albumin), which are predominantly upregulated in IBC. The hub genes exhibited interactions with miRNAs, and hsa-mir-29b-3p was identified as a significant miRNA. Also, it was shown that all hub genes are a potential prognostic biomarker for disease.</p> Conclusion <p>Evaluation of hub genes and related molecular pathways can help inhibit the progression of DCIS to IBC and increase patients' survival.</p>

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Investigating the Genes and Molecular Pathways Involved in the Progression of Ductal Carcinoma In Situ to Invasive Breast Cancer: A Bioinformatics Approach

  • 期刊论文

  • 发表日期：

    2025年2月2日

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  • Bahareh Shateri Amiri,
  • Reza Maddah,
  • Nahid Nafissi

摘要

Introduction

Ductal carcinoma in situ (DCIS) represents the early stage of breast cancer. Involved women with DCIS have a higher risk of progressing to invasive BC. Understanding the molecular mechanisms involved in developing invasive BC from DCIS can lead to the discovery of new biomarkers and targets for effective treatment.

Material and methods

The study used gene expression data from the Gene Expression Omnibus repository to identify differentially expressed genes (DEGs) between invasive BC and DCIS specimens. Protein–protein interaction (PPI) analysis was conducted via the GeneMANIA database and Cytoscape visualized them. Receiver operating characteristic (ROC) analysis was used to assess the diagnostic accuracy of the identified hub genes as potential biomarkers.

Results

In the differential expression analysis, 164 genes were identified as differentially expressed between IBC and DCIS groups, with 54 upregulated and 110 downregulated genes. The PPI analysis resulted in a network with eight hub genes (FN1, COL1A1, COL1A2, COL3A1, COL10A1, POSTN, and COL5A2, and albumin), which are predominantly upregulated in IBC. The hub genes exhibited interactions with miRNAs, and hsa-mir-29b-3p was identified as a significant miRNA. Also, it was shown that all hub genes are a potential prognostic biomarker for disease.

Conclusion

Evaluation of hub genes and related molecular pathways can help inhibit the progression of DCIS to IBC and increase patients' survival.