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Updated: May 24, 2026
09:49
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Are breast cancers driven by fusion genes?
Paul A W Edwards1, Karen D Howarth
1Hutchison/MRC Research Centre and Department of Pathology, University of Cambridge, Hills Road, Cambridge, CB2 0XZ, UK. pawe1@cam.ac.uk
Breast Cancer Research : BCR
|March 20, 2012
Summary
Gene fusions, once thought rare in breast cancer, are now frequently found. Researchers identified new fusion genes, including SEC16A-NOTCH1, indicating most breast cancers express multiple gene fusions.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Gene fusions were historically considered rare in epithelial cancers, primarily associated with leukemias and sarcomas.
- Recent research has identified an increasing number of gene fusions in various epithelial cancers, including breast cancer.
- The discovery of gene fusions in breast cancer challenges previous assumptions about their prevalence.
Purpose of the Study:
- To investigate the prevalence and types of gene fusions in breast cancer.
- To identify novel recurrent gene fusions in breast cancer samples.
- To understand the broader role of gene fusions in breast cancer development.
Main Methods:
- Analysis of gene expression data from breast cancer patients.
- Identification and characterization of gene fusion events using bioinformatics approaches.
- Comparison of fusion gene profiles across different breast cancer subtypes.
Main Results:
- Robinson and colleagues reported a significant number of gene fusions in breast cancer in Nature Medicine (December 2011).
- The first recurrent fusion gene, SEC16A-NOTCH1, was identified in breast cancer.
- Multiple instances of fusions involving genes such as MAST kinase family members and Notch were observed.
- These findings suggest that most breast cancers express multiple fusion genes.
Conclusions:
- Gene fusions are more common in breast cancer than previously thought.
- The identification of recurrent fusions like SEC16A-NOTCH1 highlights specific oncogenic drivers.
- The prevalence of multiple fusion genes in breast cancer indicates a complex genetic landscape.
- These findings support an emerging paradigm of gene fusions being a common feature in breast cancers.
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