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Published on: September 1, 2019
Typical Enhancers, Super-Enhancers, and Cancers
Marianna A Koutsi1, Marialena Pouliou1, Lydia Champezou1
1Center of Basic Research, Biomedical Research Foundation, Academy of Athens, 4 Soranou Ephessiou St., 11527 Athens, Greece.
Genomic variations in cancer disrupt enhancers and Super-enhancers, altering gene expression. This study explores these mechanisms, technologies, and treatments for aberrant Super-enhancer function.
Area of Science:
- Genomics
- Cancer Biology
- Epigenetics
Background:
- Non-coding DNA contains cis-regulatory modules like enhancers and Super-enhancers.
- Cancer involves dysregulated gene expression compared to normal cells.
- Genomic variations in regulatory elements can drive cancer pathogenesis.
Purpose of the Study:
- To describe mechanisms of gene expression dysregulation in cancer due to genomic variations in enhancers and Super-enhancers.
- To review technologies for analyzing variation-enriched cancer genome regions.
- To discuss pharmacological treatments for aberrant Super-enhancer function.
Main Methods:
- Comprehensive review of mechanisms involving genomic abnormalities in enhancer/Super-enhancer sequences.
- Description of technologies for analyzing variation-enriched cancer genome hotspots.
- Intratumor meta-analysis of transcription-factor-driven tumors.
Main Results:
- Genomic variations within enhancers and Super-enhancers alter their function and specificity.
- These variations impact the epigenomic landscape.
- Genomic variations in transcription-factor-driven tumors correlate with gene overexpression, including additional cancer-related transcription factors.
Conclusions:
- Genomic variations in regulatory elements are key drivers of cancer gene expression dysregulation.
- Advanced technologies are crucial for understanding these complex genomic alterations.
- Targeting Super-enhancer function offers potential therapeutic strategies for cancer treatment.
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