Exploration of the Shared Gene Signatures and Molecular Mechanisms Between Breast Cancer and Endometriosis

Linyue Hai, Xuchen Cao, Chunhua Xiao
In: Research Square · 2023 · doi:10.21203/rs.3.rs-2649506/v1 · W4361001031
preprint OA: green CC0
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This bioinformatics study identified 33 overlapping differentially expressed genes and five hub genes (HOXA10, PAX8, MSX1, FGFR1, INHBA) common to breast cancer and endometriosis, revealing links to stem cell pluripotency and transcription regulation.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 ⓘ

This preprint used bioinformatics to compare breast cancer and endometriosis gene expression by downloading GEO datasets for breast cancer (GSE15852) and endometriosis (GSE5108), identifying differentially expressed genes (|log2FC|≥1, p<0.05), and then intersecting them to derive shared signatures. Through functional enrichment and protein-protein interaction network analysis (STRING/Cytoscape), the study reports 33 overlapping DEGs and enrichments involving stem cell pluripotency and cancer transcription mis-regulation, and it highlights five hub genes (HOXA10, PAX8, MSX1, FGFR1, INHBA). The hub gene expression levels in breast cancer were further associated with pathological stage, age, stemness score, and immune cell infiltration, but the paper is limited to re-analysis of public microarray datasets and is not peer reviewed. Relevance to endometriosis: the paper’s main goal is to identify shared gene signatures between endometriosis and breast cancer and it specifically names endometriosis as one of the two diseases analyzed (via GSE5108 and overlapping DEGs/hub genes).

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Abstract

Abstract Background Globally, breast cancer (BC) is the most common type of cancer and the second leading cause of cancer-related deaths among women. Early diagnosis and survival outcomes will be improved through the identification of modifiable risk factors and the development of better disease management strategies. There are many similarities between endometriosis and breast cancer, both in terms of risk factors and developmental characteristics. Thus, it would be beneficial to explore the common mechanisms behind the onset of BC and endometriosis to develop more effective intervention strategies in the future. In this study, bioinformatics was used to explore the key molecules and pathways that mediate the co-occurrence of BC and endometriosis. Method From the Gene Expression Omnibus (GEO) database, datasets for BC (GSE15852) and endometriosis (GSE5108) were downloaded. By using the GEO2R online tool, we were able to identify the differentially expressed genes (DEGs) between two diseases. Afterward, a protein-protein interaction network (PPI) was constructed based on DEG enrichment analysis. Additionally, the hub genes were identified using the STRING database and Cytoscape software. We investigated the relationship between hub gene expression levels and clinical expression, pathological stage, age, and prognosis. As a final step, transcription factor interaction, stemness score, and immune cell infiltration analysis were conducted on hub genes in BC. Results We identified 33 overlapping DEGs (18 downregulated genes and 15 upregulated genes) for further analysis. The significant functional pathways of DEGs were enriched in regulating the pluripotency of stem cells and the mis-regulation of transcription in cancer. Additionally, five key hub genes were identified, including HOXA10, PAX8, MSX1, FGFR1, and INHBA. Pathological stages, age, stemness score, and immune infiltration were associated with the expression level of hub genes. Conclusion A novel insight into the molecular mechanism of endometriosis complicated with BC is provided by the finding that HOXA10, PAX8, MSX1, FGFR1, and INHBA were hub genes for the co-occurrence of BC and endometriosis.

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endometriosis

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References (100)

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