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

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 Baren, Nicola Waddell, Karin W. Wadt, Lindsay A. McGrath, Sunil K. Warrier, William Glasson and Nicholas K. Hayward ()
Additional contact information
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
Antonia L. Pritchard: QIMR Berghofer Medical Research Institute
Natasa Broit: QIMR Berghofer Medical Research Institute
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
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
Chris W. Schmidt: QIMR Berghofer Medical Research Institute
Georgina V. Long: The University of Sydney
Hayley Hamilton: QIMR Berghofer Medical Research Institute
Jens F. Kiilgaard: Rigshospitalet-Glostrup Hospital, University of Copenhagen
Timothy Isaacs: Perth Retina
Elin S. Gray: Edith Cowan University
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
Richard A. Scolyer: The University of Sydney
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

Nature Communications, 2020, vol. 11, issue 1, 1-8

Abstract: 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).

Date: 2020
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-16276-8

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DOI: 10.1038/s41467-020-16276-8

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