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Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

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  1. SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

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  2. Imidazole propionate is increased in diabetes and associated with dietary patterns and altered microbial ecology

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  3. Human endogenous retroviruses form a reservoir of T cell targets in hematological cancers

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  4. Identification of epilepsy-associated neuronal subtypes and gene expression underlying epileptogenesis

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  1. Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. COMPARATIVE EFFECTIVENESS OF PROTON BEAM VERSUS PHOTODYNAMIC THERAPY TO SPARE THE VISION IN CIRCUMSCRIBED CHOROIDAL HEMANGIOMA

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  3. Measuring aniseikonia tolerance range for stereoacuity - a tool for the refractive surgeon

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Peter A Johansson
  • Kelly Brooks
  • Felicity Newell
  • Jane M Palmer
  • James S Wilmott
  • Antonia L Pritchard
  • Natasa Broit
  • Scott Wood
  • Matteo S Carlino
  • Conrad Leonard
  • Lambros T Koufariotis
  • Vaishnavi Nathan
  • Aaron B Beasley
  • Madeleine Howlie
  • Rebecca Dawson
  • Helen Rizos
  • Chris W Schmidt
  • Georgina V Long
  • Hayley Hamilton
  • Jens F Kiilgaard
  • Timothy Isaacs
  • Elin S Gray
  • Olivia J Rolfe
  • John J Park
  • Andrew Stark
  • Graham J Mann
  • Richard A Scolyer
  • John V Pearson
  • Nicolas van Baren
  • Nicola Waddell
  • Karin W Wadt
  • Lindsay A McGrath
  • Sunil K Warrier
  • William Glasson
  • Nicholas K Hayward
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Uveal melanoma (UM) is the most common intraocular tumour in adults and despite surgical or radiation treatment of primary tumours, ~50% of patients progress to metastatic disease. Therapeutic options for metastatic UM are limited, with clinical trials having little impact. Here we perform whole-genome sequencing (WGS) of 103 UM from all sites of the uveal tract (choroid, ciliary body, iris). While most UM have low tumour mutation burden (TMB), two subsets with high TMB are seen; one driven by germline MBD4 mutation, and another by ultraviolet radiation (UVR) exposure, which is restricted to iris UM. All but one tumour have a known UM driver gene mutation (GNAQ, GNA11, BAP1, PLCB4, CYSLTR2, SF3B1, EIF1AX). We identify three other significantly mutated genes (TP53, RPL5 and CENPE).

Original languageEnglish
Article number2408
JournalNature Communications
Volume11
Issue number1
Pages (from-to)2408
ISSN2041-1723
DOIs
Publication statusPublished - 15 May 2020

ID: 59854065