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What hope for the future? GNAQ and uveal melanoma
  1. Karen Sisley1,
  2. Rachel Doherty2,
  3. Neil A Cross2
  1. 1Academic Unit of Ophthalmology and Orthoptics, University of Sheffield, Sheffield, UK
  2. 2Department of Biosciences, Sheffield Hallam University, Sheffield, UK
  1. Correspondence to Dr K Sisley, Academic Unit of Ophthalmology and Orthoptics, Department of Oncology, K Floor, School of Medicine & Biomedical Sciences, Faculty of Medicine, Dentistry & Health, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, UK; k.sisley{at}


Uveal melanomas (UM) are aggressive ocular tumours that spread to the liver. They are characterised by alterations of chromosome 3 and 8, which are highly predictive of a poor prognosis. Unfortunately, being able to identify those patients with aggressive disease has not, as yet, translated into improved survival. Recently, mutations of guanine nucleotide-binding protein G(q) subunit alpha (GNAQ, or G-alpha-q), which effectively turn it into a dominantly acting oncogene, have been identified in approximately half of UM. These mutations are specific to UM and other non-cutaneous melanomas, and are not found in normal tissues, thus making them potential therapeutic targets. Here, the authors review the background to GNAQ in UM and explore what makes it such an interesting target for the future treatment of patients.

  • Melanoma
  • genetics
  • uveal
  • mutations
  • GNAQ
  • neoplasia

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  • Funding We are grateful for the continued support for uveal melanoma research in Sheffield, through a combination of research grants from Weston Park Hospital Cancer Charity, Yorkshire Cancer Research and Yorkshire Eye Research.

  • Competing interests None.

  • Provenance and peer review Commissioned; externally peer reviewed.

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