The landscape of kinase fusions in cancer
Open accessAbstract
Human cancer genomes harbour a variety of alterations leading to the deregulation of key pathways in tumour cells. The genomic characterization of tumours has uncovered numerous genes recurrently mutated, deleted or amplified, but gene fusions have not been characterized as extensively. Here we develop heuristics for reliably detecting gene fusion events in RNA-seq data and apply them to nearly 7,000 samples from The Cancer Genome Atlas. We thereby are able to discover several novel and recurrent fusions involving kinases. These findings have immediate clinical implications and expand the therapeutic options for cancer patients, as approved or exploratory drugs exist for many of these kinases.
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Artifacts can be identified by their presence in a large number of unrelated datasets, after excluding the possibility that they represent true recurrent fusions.
“When control datasets are not available, artifacts can be identified by their presence in a large number of unrelated datasets, after excluding the possibility that they represent true recurrent fusions [90, 91].”
From A survey of best practices for RNA-seq data analysis (2016) · cites this paper as [91]
High confidence predictions have fusion boundaries coincident with exon boundaries and exons matching wild-type exons.
“Thus, high confidence predictions have fusion boundaries coincident with exon boundaries and exons matching wild-type exons [91].”
From A survey of best practices for RNA-seq data analysis (2016) · cites this paper as [91]
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Toward a More Precise Future for Oncology
Murciano-Goroff, Y. R., Taylor, B. S., Hyman, D. M., & Schram, A. M. (2020) · Cancer Cell · doi:10.1016/j.ccell.2020.03.014 · Cited by 48 · see citing works
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- Authors
- Stransky, N., Cerami, E., Schalm, S., Kim, J. L., & Lengauer, C.
- Affiliations
- Blueprint Medicines (United States) (US)
- Venue
- Nature Communications
- Published
- 2014-09-10
- Volume
- 5
- Issue
- 1
- Pages
- 4846-4846
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC4175590
- OpenAlex
- W2053343049
- Cited by
- 968
- References
- 62
- Citations by year
- 2026: 33 · 2025: 62 · 2024: 70 · 2023: 82 · 2022: 87 · 2021: 135 · 2020: 120 · 2019: 98 · 2018: 87 · 2017: 81 · 2016: 63 · 2015: 46 · 2014: 3
- FWCI
- 20.73
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Keywords
- kinase fusions, gene fusion, cancer genomics, recurrent fusions, kinase inhibitors, targeted cancer therapy, TCGA
- MeSH terms
- Humans, Neoplasms, Phosphotransferases, Genome, Human, Sequence Analysis, RNA, Gene Expression Profiling, Gene Fusion, Molecular Targeted Therapy
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