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

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

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

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  3. Author Correction: Identification of epilepsy-associated neuronal subtypes and gene expression underlying epileptogenesis

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  4. Imidazole propionate is increased in diabetes and associated with dietary patterns and altered microbial ecology

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  5. Identification of epilepsy-associated neuronal subtypes and gene expression underlying epileptogenesis

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  1. The molecular profile of mucosal melanoma

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  2. Monocular and binocular end-points after epiretinal membrane surgery and their correlation to patient-reported outcomes

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  3. Tumour control probability after Ruthenium-106 brachytherapy for choroidal melanomas

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  4. Genetic Biomarkers in Melanoma of the Ocular Region: What the Medical Oncologist Should Know

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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