Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Fusion Genes

  • Patrizia GaspariniEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_2285-5



A hybrid gene created by joining portions of two different genes (to produce a new protein) or by joining a gene to a different promoter (to alter or deregulate a gene transcription).


A wide variety of recurrent molecular alterations has been associated with cancer including polymorphisms, changes in gene copy number (amplifications and deletions), point mutations, epigenetic modifications, and gene fusions due to structural chromosomal rearrangements, such as translocations and less frequently inversions. As for these last ones, the genes located at the breakpoints of the rearrangement may be structurally changed with dramatic effects on their products. Molecularly, two events of structural aberrations can be generated: “promoter swapping” (the exchange of promoter control regions) or fusion gene.

In detail (Fig. 1a), “promoter swapping” occurs when the regulatory elements of a gene...


Retinoic Acid Papillary Thyroid Carcinoma Fusion Gene Chronic Myelogenous Leukemia Chromosomal Rearrangement 
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© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Tumor Genomic Unit, Department of Experimental OncologyIstituto Nazionale TumoriMilanItaly