Fusion genes and chromosome translocations in the common epithelial cancers
Open accessAbstract
It has been known for 25 years that fusion genes play a central role in leukaemias and sarcomas but they have been neglected in the common carcinomas, largely because of technical limitations of cytogenetics. In the last few years it has emerged that gene fusions, caused by chromosome translocations, inversions, deletions, etc., are important in the common epithelial cancers, such as prostate and lung carcinoma. Most prostate cancers, for example, have an androgen-regulated fusion of one of the ETS transcription factor gene family. Early results of genome-wide searches for gene fusions in breast and other epithelial cancers suggest that most individual tumours will have several fused genes. Fusion genes are exceptionally powerful mutations. In their simplest form they can turn on expression by promoter insertion but they can also, for example, force dimerization of a protein or change its subcellular location. They are correspondingly important clinically, in classification and management and as targets for therapy. This review surveys what we know of fusion genes in the carcinomas, summarizes the technical advances that now make it possible to search systematically for such genes, and concludes by putting fusion genes into the current picture of mutation in cancers.
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Genome structural variations can lead to gene fusions and are often drivers of cancer.
“genome structural variations can lead to gene fusions and are often drivers of cancer”
From Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration (2023) · cites this paper as [112]
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- Authors
- Edwards, P. A.
- Affiliations
- University of Cambridge (GB)
- Corresponding author
- Edwards, Paul AW
- ORCID
- Edwards, Paul AW
- Venue
- The Journal of Pathology
- Publisher
- Wiley
- Published
- 2009-11-17
- Volume
- 220
- Issue
- 2
- Pages
- 244-254
- ISSN
- 0022-3417 (ISSN-L)
- 1096-9896
- OpenAlex
- W2048346312
- Cited by
- 126
- References
- 102
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 8 · 2023: 6 · 2022: 6 · 2021: 7 · 2020: 10 · 2019: 7 · 2018: 6 · 2017: 7 · 2016: 9 · 2015: 11 · 2014: 3 · 2013: 10 · 2012: 12
- FWCI
- 0.98
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Pathology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- British Heart Foundation (14545)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- fusion genes, chromosomal translocation, epithelial cancers, carcinoma, prostate cancer, lung cancer, ETS transcription factors, breast cancer, cancer classification, targeted therapy
- MeSH terms
- Humans, Neoplasms, Glandular and Epithelial, Translocation, Genetic, Oligonucleotide Array Sequence Analysis, Gene Fusion, Genes, Neoplasm, Genome-Wide Association Study
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