Identification of differentially expressed genes and their major pathways in breast cancer among the Indian population through bioinformatics analysis

通过生物信息学分析鉴定印度人群乳腺癌中差异表达基因及其主要通路

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Abstract

BACKGROUND: Breast cancer remains a leading cause of mortality among Indian women, with genetic and molecular factors playing crucial roles in its pathogenesis. Understanding the key genes and pathways involved can aid in developing targeted therapies and improving patient outcomes. METHODS: This study utilized publicly available gene expression datasets from the Gene Expression Omnibus (GEO), specifically GSE40206 and GSE89116, to identify differentially expressed genes (DEGs) in breast cancer among the Indian population. Data preprocessing, normalization, and statistical analysis were performed to identify significant DEGs. Pathway enrichment analysis, protein‒protein interaction (PPI) network construction, and survival analysis were conducted to identify key molecular mechanisms and potential therapeutic targets. RESULTS: Differential expression analysis revealed significant dysregulation of genes associated with immune response, lipid metabolism, and cell cycle regulation. Pathway enrichment highlighted PI3K-Akt and MAPK signalling and metabolic reprogramming. Protein-protein interaction analysis identified multiple hub genes, with ten showing significant or borderline associations with overall survival across age-stratified groups, indicating their potential utility as prognostic biomarkers. CONCLUSION: This study provides valuable insights into the molecular landscape of breast cancer in the Indian population, highlighting key genes and pathways that may serve as therapeutic targets. Population-specific and age-stratified molecular studies are essential for advancing precision oncology and developing tailored treatment approaches for Indian breast cancer patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s40203-026-00581-z.

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