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Updated: Sep 21, 2025

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
Published on: April 26, 2017
Dysregulation and therapeutic targeting of RNA splicing in cancer
Robert F Stanley1, Omar Abdel-Wahab2
1Human Oncology and Pathogenesis Program and Leukemia Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Abstract:
High-throughput sequencing and functional characterization of the cancer transcriptome have uncovered cancer-specific dysregulation of RNA splicing across a variety of cancers. Alterations in the cancer genome and dysregulation of RNA splicing factors lead to missplicing, splicing alteration-dependent gene expression and, in some cases, generation of novel splicing-derived proteins. Here, we review recent advances in our understanding of aberrant splicing in cancer pathogenesis and present strategies to harness cancer-specific aberrant splicing for therapeutic intent.
Insights
Cancer research reveals widespread RNA splicing errors driving tumor development. Understanding these splicing alterations offers new therapeutic strategies for various cancers.
Area of Science:
- Molecular Biology
- Oncology
- Genetics
Background:
- Aberrant RNA splicing is increasingly recognized as a hallmark of cancer.
- Genomic alterations and disrupted splicing factors contribute to cancer-specific splicing changes.
- These changes can affect gene expression and produce novel proteins.
Purpose of the Study:
- To review recent advances in understanding aberrant RNA splicing in cancer.
- To explore therapeutic strategies targeting cancer-specific splicing.
Main Methods:
- Review of current literature on cancer splicing.
- Analysis of high-throughput sequencing data.
- Functional characterization of splicing alterations.
Main Results:
- High-throughput sequencing identifies widespread, cancer-specific splicing dysregulation.
- Aberrant splicing impacts gene expression and protein products in tumors.
- Novel splicing-derived proteins can arise from these alterations.
Conclusions:
- Aberrant RNA splicing is a critical factor in cancer pathogenesis.
- Targeting cancer-specific splicing represents a promising therapeutic avenue.
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