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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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Abstract:
A new study of all 32 cancer types in The Cancer Genome Atlas identifies genomic alterations that increase the activity of the PI3K/AKT/mTOR pathway. The study, which combines mutation data with measures of protein levels and phosphorylation status, suggests that mutations in IDH1, VHL, and STK11 promote activation of the pathway and may point to new drug targets.
Insights
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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