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The emerging complexity of gene fusions in cancer.

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Author

Summary, in English

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.

Department/s

Publishing year

2015

Language

English

Pages

371-381

Publication/Series

Nature Reviews. Cancer

Volume

15

Issue

6

Document type

Journal article review

Publisher

Nature Publishing Group

Topic

  • Medical Genetics

Status

Published

Research group

  • The genetics of soft tissue tumors
  • Translational Genomic and Functional Studies of Leukemia

ISBN/ISSN/Other

  • ISSN: 1474-1768