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Gene fusions in tumourigenesis with particular reference to ovarian cancer
  1. Yi Zhou1,
  2. Mona El-Bahrawy2,3
  1. 1 Surgery and Cancer, Imperial College London, London, UK
  2. 2 Metabolism, Digestion and Reproduction, Imperial College London, London, UK
  3. 3 Pathology, Alexandria University Faculty of Medicine, Alexandria, Egypt
  1. Correspondence to Professor Mona El-Bahrawy, Metabolism, Digestion and Reproduction, Imperial College London, Hammersmith Hospital, London W12 0NN, UK; m.elbahrawy{at}


Gene fusion, a genomic event that generates a novel gene from two independent genes, has long been known to be implicated in tumourigenesis and cancer progression. It has thus served as a diagnostic and prognostic biomarker in cancer, as well as an ideal therapeutic target in cancer therapy. Gene fusion can arise from chromosomal rearrangement and alternative splicing of transcripts, resulting in deregulation of proto-oncogenes or creation of an oncogenic novel gene. Largely facilitated by next generation sequencing technologies, a plethora of novel gene fusions have been identified in a variety of cancers, which leaves us the challenge of functionally characterising these candidate gene fusions. In this review, we summarise the molecular mechanisms, the oncogenic consequences and the therapeutic implications of verified gene fusions. We also discuss recent studies on gene fusions in both common and rare subtypes of ovarian tumours and how these findings can be translated to cancer therapies to benefit patients carrying these gene fusions.

  • medical oncology
  • genetics

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  • Contributors YZ wrote the manuscript. ME-B conceptualised the topic and outline of the review and made significant contributions to the editing of the article.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.