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Updated: Feb 28, 2026
03:08
Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization
Published on: October 3, 2025
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Summary
Genomic alterations in cancer activate the PI3K/AKT/mTOR pathway. Mutations in IDH1, VHL, and STK11 genes are key drivers, potentially revealing new cancer drug targets.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- The PI3K/AKT/mTOR pathway is frequently dysregulated in cancer.
- Understanding the genomic drivers of pathway activation is crucial for targeted therapy.
Purpose of the Study:
- To identify specific genomic alterations that lead to PI3K/AKT/mTOR pathway activation across all 32 cancer types.
- To explore potential new therapeutic targets based on these genomic alterations.
Main Methods:
- Analysis of The Cancer Genome Atlas (TCGA) data for all 32 cancer types.
- Integration of mutation data with protein expression and phosphorylation levels.
- Identification of genomic alterations associated with pathway activation.
Main Results:
- Genomic alterations activating the PI3K/AKT/mTOR pathway were identified across various cancer types.
- Mutations in IDH1, VHL, and STK11 were found to promote pathway activation.
- These findings highlight specific genetic drivers of pathway hyperactivation.
Conclusions:
- Specific genomic alterations, including mutations in IDH1, VHL, and STK11, significantly contribute to PI3K/AKT/mTOR pathway activation in cancer.
- These identified mutations represent potential biomarkers and novel therapeutic targets for cancer treatment.
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