Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

  1. A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. An atlas of O-linked glycosylation on peptide hormones reveals diverse biological roles

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Author Correction: Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Functional hypoxia drives neuroplasticity and neurogenesis via brain erythropoietin

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. The tolerance of anisometropia

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Isolated Ocular Sarcoidosis Mimicking Ring Melanoma

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    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
View graph of relations

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