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Updated: Feb 18, 2026

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
Published on: April 26, 2017
Targeting splicing abnormalities in cancer
Anant A Agrawal1, Lihua Yu1, Peter G Smith1
1H3 Biomedicine, Inc., Cambridge, MA, USA.
Abstract:
Recently splicing has been recognized as a key pathway in cancer. Although aberrant splicing has been shown to be a consequence of mutations or the abnormal expression of splicing factors (trans-effect changes) or mutations in the splicing sequences (cis-effect mutations), the connections between aberrant splicing and cancer initiation or progression are still not well understood. Here we review the mutational landscape of splicing factors in cancer and associated splicing consequences, along with the most important examples of the therapeutic approaches targeting the spliceosome currently being investigated in oncology.
Insights
Aberrant splicing plays a key role in cancer. This review explores cancer-associated splicing factor mutations, their effects on splicing, and emerging spliceosome-targeted cancer therapies.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Aberrant splicing is increasingly recognized as a significant factor in cancer development and progression.
- The mechanisms linking aberrant splicing to cancer initiation and advancement are not fully elucidated.
- Splicing alterations can arise from genetic mutations affecting splicing factors or regulatory sequences.
Purpose of the Study:
- To review the landscape of splicing factor mutations observed in various cancers.
- To discuss the downstream splicing consequences resulting from these mutations.
- To highlight current therapeutic strategies targeting the spliceosome in oncology.
Main Methods:
- Literature review of studies on splicing factor mutations in cancer.
- Analysis of reported splicing alterations and their functional impact.
- Survey of ongoing clinical investigations into spliceosome-targeting drugs.
Main Results:
- Splicing factors are frequently mutated across diverse cancer types.
- These mutations lead to widespread changes in messenger RNA splicing patterns.
- Several therapeutic agents targeting the spliceosome are under active investigation for cancer treatment.
Conclusions:
- Mutations in splicing factors represent a critical aspect of cancer biology.
- Understanding these mutations and their consequences is vital for developing novel cancer therapies.
- Targeting the spliceosome offers a promising avenue for future oncological treatments.
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