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Updated: Jan 26, 2026

Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
Published on: June 27, 2020
Molecular mechanisms and pathobiology of oncogenic fusion transcripts in epithelial tumors
Musaffe Tuna1,2, Christopher I Amos2,3, Gordon B Mills4,5,6
1Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Abstract:
Recurrent fusion transcripts, which are one of the characteristic hallmarks of cancer, arise either from chromosomal rearrangements or from transcriptional errors in splicing. DNA rearrangements include intrachromosomal or interchromosomal translocation, tandem duplication, deletion, inversion, or result from chromothripsis, which causes complex rearrangements. In addition, fusion proteins can be created through transcriptional read-through. Fusion genes can be transcribed to fusion transcripts and translated to chimeric proteins, with many having demonstrated transforming activities through multiple mechanisms in cells. Fusion proteins represent novel therapeutic targets and diagnostic biomarkers of diagnosis, disease status, or progression. This review focuses on the mechanisms underlying the formation of oncogenic fusion genes and transcripts and their impact on the pathobiology of epithelial tumors.
Insights
Recurrent fusion transcripts, hallmarks of cancer, arise from DNA rearrangements or splicing errors. These oncogenic fusion genes create proteins that are key therapeutic targets and diagnostic biomarkers for epithelial tumors.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Recurrent fusion transcripts are characteristic hallmarks of cancer.
- They originate from chromosomal rearrangements (e.g., translocations, chromothripsis) or transcriptional errors like splicing errors and read-through transcription.
- Fusion proteins derived from these transcripts can exhibit transforming activities.
Purpose of the Study:
- To review the mechanisms of oncogenic fusion gene and transcript formation.
- To discuss the impact of these fusions on the pathobiology of epithelial tumors.
- To highlight fusion proteins as therapeutic targets and diagnostic biomarkers.
Main Methods:
- Literature review of mechanisms generating fusion genes and transcripts.
- Analysis of the pathobiological impact of fusion proteins in epithelial cancers.
- Synthesis of current knowledge on therapeutic and diagnostic applications.
Main Results:
- Fusion genes can form through various DNA rearrangements and transcriptional processes.
- Chimeric proteins resulting from fusion transcripts possess oncogenic potential.
- Fusion proteins serve as crucial biomarkers for cancer diagnosis, status, and progression.
Conclusions:
- Understanding fusion gene formation is critical for cancer research.
- Oncogenic fusion proteins offer promising avenues for targeted cancer therapies.
- Fusion transcripts and proteins are valuable diagnostic and prognostic tools in oncology.
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