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Updated: Jun 27, 2026

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
Published on: October 9, 2014
Alternative splicing: an emerging topic in molecular and clinical oncology
María J Pajares1, Teresa Ezponda, Raúl Catena
1Oncology Division, Centre for Applied Medical Research, School of Medicine, University of Navarra, Pamplona, Spain.
Abstract:
Alternative pre-mRNA splicing is a key molecular event that allows for protein diversity. Through this process, a single gene increases its coding capacity by expressing several related proteins with diverse and even antagonistic functions. Aberrant splicing has been found to be associated with various diseases, including cancer. Mutations in splicing regulatory elements within the nucleotide sequence and alterations in the cellular-splicing-regulatory machinery both result in changes in the splicing pattern of many cancer-related genes. The analysis of cancer-specific alternative splicing and its molecular consequences is promising. In this review we summarise the current knowledge on the mechanisms governing abnormal alternative splicing in cancer and the biological consequences associated with the alteration of splicing in some relevant cancer-related genes. The use of alternative splicing as a potential source for new diagnostic, prognostic, predictive, and therapeutic tools is also discussed.
Insights
Alternative pre-messenger RNA (mRNA) splicing generates protein diversity but aberrant splicing drives cancer. Understanding cancer-specific splicing alterations and their consequences offers potential for new diagnostic and therapeutic tools.
Area of Science:
- Molecular Biology
- Genetics
- Cancer Research
Background:
- Alternative pre-messenger RNA (mRNA) splicing is a fundamental biological process enabling a single gene to produce multiple protein isoforms.
- Dysregulation of alternative splicing is implicated in the pathogenesis of various diseases, notably cancer.
- Alterations in splicing patterns of cancer-related genes arise from mutations in regulatory elements or changes in splicing machinery.
Purpose of the Study:
- To review the mechanisms of aberrant alternative splicing in cancer.
- To discuss the biological consequences of altered splicing in cancer-related genes.
- To explore the potential of alternative splicing as a source for cancer biomarkers and therapeutics.
Main Methods:
- Literature review of studies on alternative splicing in cancer.
- Analysis of molecular mechanisms driving aberrant splicing.
- Examination of biological impacts of splicing alterations in cancer genes.
Main Results:
- Cancer-specific alternative splicing is driven by genetic mutations and regulatory machinery changes.
- Altered splicing of key cancer genes leads to diverse and potentially antagonistic protein functions.
- Aberrant splicing contributes to cancer development and progression.
Conclusions:
- Understanding cancer-specific alternative splicing mechanisms is crucial for cancer research.
- Alternative splicing alterations present opportunities for developing novel diagnostic, prognostic, and therapeutic strategies.
- Targeting aberrant splicing pathways may offer new avenues for cancer treatment.
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