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. KiilgaardTimothy 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 (2020)
Pages (from-to)1-8
Number of pages8
JournalNature Communications
Publication statusPublished - 15 May 2020


  • 3ref2021


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