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https://wslhd.intersearch.com.au/wslhdjspui/handle/1/2677| Title: | Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours |
| Authors: | Johansson, P. A.;Brooks, K.;Newell, F.;Palmer, J. M.;Wilmott, J. S.;Pritchard, A. L.;Broit, N.;Wood, S.;Carlino, Matteo S.;Leonard, C.;Koufariotis, L. T.;Nathan, V.;Beasley, A. B.;Howlie, M.;Dawson, R.;Rizos, H.;Schmidt, C. W.;Long, Georgina V.;Hamilton, H.;Kiilgaard, J. F.;Isaacs, T.;Gray, E. S.;Rolfe, O. J.;Park, John J.;Stark, A.;Mann, G. J.;Scolyer, R. A.;Pearson, J. V.;van Baren, N.;Waddell, N.;Wadt, K. W.;McGrath, L. A.;Warrier, S. K.;Glasson, W.;Hayward, N. K. |
| WSLHD Author: | Carlino, Matteo S. |
| Subjects: | Oncology;Ophthalmology |
| Issue Date: | 2020 |
| Citation: | Nature Communications. 11:2408, 2020 May |
| 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). |
| URI: | https://wslhd.intersearch.com.au/wslhdjspui/handle/1/2677 |
| DOI: | http://doi.org/10.1038/s41467-020-16276-8 |
| Journal: | Nature Communications |
| Type: | Journal Article |
| Department: | Oncology |
| Facility: | Blacktown |
| Affiliated Organisations: | QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia Sydney Medical School, The University of Sydney, Sydney, NSW, Australia University of the Highlands and Island, Inverness, UK University of Queensland, Brisbane, QLD, Australia School of Medical and Health Sciences, Edith Cowan University, Joondalup, WA, Australia Department of Biomedical Science, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia Mater Research, Woolloongabba, QLD, Australia Department of Medical Oncology, Royal North Shore Hospital, St Leonards, Sydney, NSW, Australia Queensland Ocular Oncology Service, The Terrace Eye Centre, Brisbane, QLD, Australia Department of Ophthalmology, Rigshospitalet-Glostrup Hospital, University of Copenhagen, Copenhagen, Denmark Perth Retina, Perth, WA, Australia Centre for Ophthalmology and Visual Science, University of Western Australia, Crawley, WA, Australia Department of Ophthalmology, Royal Perth Hospital, Perth, WA, Australia Centre for Cancer Research, Westmead Institute for Medical Research, The University of Sydney, Westmead, Sydney, NSW, Australia John Curtin School of Medical Research, Australian National University, Canberra, Australia Royal Prince Alfred Hospital and New South Wales Health Pathology, Sydney, Australia Ludwig Institute for Cancer Research, Brussels, Belgium Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark |
| Keywords: | chromosome aberration DNA extraction gene mutation iris tumour ultraviolet radiation uvea melanoma |
| Appears in Collections: | WSLHD publications |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Johansson-2020-Whole genome landscapes of uvea.pdf | 1.37 MB | Adobe PDF |  View/Open |
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