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The emerging complexity of gene fusions in cancer.

Author:
  • Fredrik Mertens
  • Bertil Johansson
  • Thoas Fioretos
  • Felix Mitelman
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

Abstract 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.

Keywords

  • Medical Genetics

Other

Published
  • The genetics of soft tissue tumors
  • ISSN: 1474-1768
Thoas Fioretos
E-mail: thoas.fioretos [at] med.lu.se

Principal investigator

Division of Clinical Genetics

+46 46 222 45 95

+46 70 334 33 67

BMC C13

66