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

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  1. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

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  2. Combined burden and functional impact tests for cancer driver discovery using DriverPower

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  3. Genomic footprints of activated telomere maintenance mechanisms in cancer

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  4. Pathway and network analysis of more than 2500 whole cancer genomes

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  1. The tolerance of anisometropia

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  2. Isolated Ocular Sarcoidosis Mimicking Ring Melanoma

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  3. A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

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  4. Loss of retinal tension and permanent decrease in retinal function: a new porcine model of rhegmatogenous retinal detachment

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  5. Ultra-widefield fundus photography for radiation therapy planning of ocular tumours

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

ID: 59854065