title: The emerging complexity of gene fusions in cancer.
abstract: Structural chromosome rearrangements may result in the exchange of coding or regulatory DNA sequences between genes. Many such gene fusions are strong driver mutations in neoplasia and have provided fundamental insights into the disease mechanisms that are involved in tumorigenesis. The close association between the type of gene fusion and the tumour phenotype makes gene fusions ideal for diagnostic purposes, enabling the subclassification of otherwise seemingly identical disease entities. In addition, many gene fusions add important information for risk stratification, and increasing numbers of chimeric proteins encoded by the gene fusions serve as specific targets for treatment, resulting in dramatically improved patient outcomes. In this Timeline article, we describe the spectrum of gene fusions in cancer and how the methods to identify them have evolved, and also discuss conceptual implications of current, sequencing-based approaches for detection.
authors.affiliation: Department of Clinical Genetics, Lund University and Skåne University Hospital, SE-221 85 Lund, Sweden.
authors.forename: Fredrik
authors.initials: F
authors.lastname: Mertens
authors.affiliation: Department of Clinical Genetics, Lund University and Skåne University Hospital, SE-221 85 Lund, Sweden.
authors.forename: Bertil
authors.initials: B
authors.lastname: Johansson
authors.affiliation: Department of Clinical Genetics, Lund University and Skåne University Hospital, SE-221 85 Lund, Sweden.
authors.forename: Thoas
authors.initials: T
authors.lastname: Fioretos
authors.affiliation: Department of Clinical Genetics, Lund University and Skåne University Hospital, SE-221 85 Lund, Sweden.
authors.forename: Felix
authors.initials: F
authors.lastname: Mitelman
mesh_terms: D020732:Cytogenetic Analysis; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D050939:Gene Fusion; D053263:Gene Regulatory Networks; D005821:Genetic Techniques; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009154:Mutation; D009369:Neoplasms / Q000235:genetics* / Q000473:pathology*; D010051:Ovarian Neoplasms / Q000235:genetics