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PMID: 25998716 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

The emerging complexity of gene fusions in cancer.

Nature reviews. Cancer ·Vol. 15 ·No. 6 ·2015-06-00 ·Pages 371-81

Mertens F, Johansson B, Fioretos T, Mitelman F

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.

MeSH Terms
Cytogenetic Analysis Female Gene Expression Regulation, Neoplastic Gene Fusion Gene Regulatory Networks Genetic Techniques High-Throughput Nucleotide Sequencing/methods Humans In Situ Hybridization, Fluorescence Mutation Neoplasms/genetics,pathology Ovarian Neoplasms/genetics
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Mertens Fredrik
Department of Clinical Genetics, Lund University and Skåne University Hospital, SE-221 85 Lund, Sweden.
Johansson Bertil
Department of Clinical Genetics, Lund University and Skåne University Hospital, SE-221 85 Lund, Sweden.
Fioretos Thoas
Department of Clinical Genetics, Lund University and Skåne University Hospital, SE-221 85 Lund, Sweden.
Mitelman Felix
Department of Clinical Genetics, Lund University and Skåne University Hospital, SE-221 85 Lund, Sweden.
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Article Info
Journal
Nature reviews. Cancer
Abbr.
Nat Rev Cancer
ISSN
1474-1768
DOI
10.1038/nrc3947
Published
2015-06-00
Pages
371-81
Language
English
Region
England
NLM ID
101124168
Subset
IM
External Links
PubMed source DOI: 10.1038/nrc3947 View journal details
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