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

Author

Listed:
  • Peter A. Johansson

    (QIMR Berghofer Medical Research Institute)

  • Kelly Brooks

    (QIMR Berghofer Medical Research Institute)

  • Felicity Newell

    (QIMR Berghofer Medical Research Institute)

  • Jane M. Palmer

    (QIMR Berghofer Medical Research Institute)

  • James S. Wilmott

    (The University of Sydney
    The University of Sydney)

  • Antonia L. Pritchard

    (QIMR Berghofer Medical Research Institute
    University of the Highlands and Island)

  • Natasa Broit

    (QIMR Berghofer Medical Research Institute
    University of Queensland)

  • Scott Wood

    (QIMR Berghofer Medical Research Institute)

  • Matteo S. Carlino

    (The University of Sydney)

  • Conrad Leonard

    (QIMR Berghofer Medical Research Institute)

  • Lambros T. Koufariotis

    (QIMR Berghofer Medical Research Institute)

  • Vaishnavi Nathan

    (QIMR Berghofer Medical Research Institute
    University of Queensland)

  • Aaron B. Beasley

    (Edith Cowan University)

  • Madeleine Howlie

    (QIMR Berghofer Medical Research Institute)

  • Rebecca Dawson

    (QIMR Berghofer Medical Research Institute)

  • Helen Rizos

    (The University of Sydney
    Macquarie University)

  • Chris W. Schmidt

    (QIMR Berghofer Medical Research Institute
    Mater Research)

  • Georgina V. Long

    (The University of Sydney
    Royal North Shore Hospital, St Leonards)

  • Hayley Hamilton

    (QIMR Berghofer Medical Research Institute
    The Terrace Eye Centre)

  • Jens F. Kiilgaard

    (Rigshospitalet-Glostrup Hospital, University of Copenhagen)

  • Timothy Isaacs

    (Perth Retina
    University of Western Australia
    Royal Perth Hospital)

  • Elin S. Gray

    (Edith Cowan University
    University of Western Australia)

  • Olivia J. Rolfe

    (The Terrace Eye Centre)

  • John J. Park

    (Macquarie University)

  • Andrew Stark

    (The Terrace Eye Centre)

  • Graham J. Mann

    (The University of Sydney
    The University of Sydney, Westmead
    Australian National University)

  • Richard A. Scolyer

    (The University of Sydney
    The University of Sydney
    Royal Prince Alfred Hospital and New South Wales Health Pathology)

  • John V. Pearson

    (QIMR Berghofer Medical Research Institute)

  • Nicolas Baren

    (Ludwig Institute for Cancer Research)

  • Nicola Waddell

    (QIMR Berghofer Medical Research Institute)

  • Karin W. Wadt

    (Rigshospitalet)

  • Lindsay A. McGrath

    (The Terrace Eye Centre)

  • Sunil K. Warrier

    (The Terrace Eye Centre)

  • William Glasson

    (The Terrace Eye Centre)

  • Nicholas K. Hayward

    (QIMR Berghofer Medical Research Institute)

Abstract

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).

Suggested Citation

  • 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, 2020. "Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours," Nature Communications, Nature, vol. 11(1), pages 1-8, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-16276-8
    DOI: 10.1038/s41467-020-16276-8
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