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

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dc.contributor.authorJohansson, Peter A.
dc.contributor.authorBrooks, Kelly
dc.contributor.authorNewell, Felicity
dc.contributor.authorPalmer, Jane M.
dc.contributor.authorWilmott, James S.
dc.contributor.authorPritchard, Antonia L.
dc.contributor.authorBroit, Natasa
dc.contributor.authorWood, Scott
dc.contributor.authorCarlino, Matteo S.
dc.contributor.authorLeonard, Conrad
dc.contributor.authorKoufariotis, Lambros T.
dc.contributor.authorNathan, Vaishnavi
dc.contributor.authorBeasley, Aaron B.
dc.contributor.authorHowlie, Madeleine
dc.contributor.authorDawson, Rebecca
dc.contributor.authorRizos, Helen
dc.contributor.authorSchmidt, Chris W.
dc.contributor.authorLong, Georgina V.
dc.contributor.authorHamilton, Hayley
dc.contributor.authorKiilgaard, Jens F.
dc.contributor.authorIsaacs, Timothy
dc.contributor.authorGray, Elin S.
dc.contributor.authorRolfe, Olivia J.
dc.contributor.authorPark, John J.
dc.contributor.authorStark, Andrew
dc.contributor.authorMann, Graham
dc.contributor.authorScolyer, Richard A.
dc.contributor.authorPearson, John V.
dc.contributor.authorvan Baren, Nicolas
dc.contributor.authorWaddell, Nicola
dc.contributor.authorWadt, Karin W.
dc.contributor.authorMcGrath, Lindsay A.
dc.contributor.authorWarrier, Sunil K.
dc.contributor.authorGlasson, William
dc.contributor.authorHayward, Nicholas K.
dc.date.accessioned2022-09-30T00:31:15Z
dc.date.available2022-09-30T00:31:15Z
dc.date.issued2020
dc.date.updated2022-10-09T07:16:32Z
dc.description.abstractUveal 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).
dc.description.sponsorshipThis project was funded by the National Health and Medical Research Council (NHMRC; 1093017), the Walking On Sunshine Foundation, Anne Stanton, Nicola Laws and Lloyd Owen in Memorial and Civic Solutions. This study was also funded by Fight for Sight, Denmark. A.L.P. is supported by Highland Island Enterprise (HMS9353763). This work was supported by an NHMRC Program Grant (G.V.L., G.J.M., R.A.S. and N.K.H.). G.V.L. is supported by an NHMRC Practitioner Fellowship and The University of Sydney, Medical Foundation. R.A.S. is supported by an NHMRC Practitioner Fellowship. Support from Melanoma Institute Australia and The Ainsworth Foundation is also gratefully acknowledged. J.S.W. is supported by a NHMRC early career fellowship (1111678). N.W. is supported by an NHMRC Senior Research Fellowship (1139071). N.K.H. is supported by an NHMRC Senior Principal Research Fellowship (1117663).en_AU
dc.format.mimetypeapplication/pdfen_AU
dc.identifier.issn2041-1723en_AU
dc.identifier.urihttp://hdl.handle.net/1885/274207
dc.language.isoen_AUen_AU
dc.provenanceThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/ licenses/by/4.0/en_AU
dc.publisherMacmillan Publishers Ltd
dc.relationhttp://purl.org/au-research/grants/nhmrc/1093017
dc.relationhttp://purl.org/au-research/grants/nhmrc/1111678
dc.relationhttp://purl.org/au-research/grants/nhmrc/1139071
dc.relationhttp://purl.org/au-research/grants/nhmrc/1117663
dc.rights© The Author(s) 2020
dc.rights.licenseCreative Commons Attribution 4.0 International Licenseen_AU
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en_AU
dc.sourceNature Communications
dc.titleWhole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours
dc.typeJournal article
dcterms.accessRightsOpen Accessen_AU
local.bibliographicCitation.issue1en_AU
local.bibliographicCitation.lastpage8en_AU
local.bibliographicCitation.startpage1en_AU
local.contributor.affiliationJohansson, Peter A., QIMR Berghofer Medical Research Instituteen_AU
local.contributor.affiliationBrooks, Kelly, QIMR Berghofer Medical Research Instituteen_AU
local.contributor.affiliationNewell, Felicity, QIMR Berghofer Medical Research Instituteen_AU
local.contributor.affiliationPalmer, Jane M., QIMR Berghofer Medical Research Instituteen_AU
local.contributor.affiliationWilmott, James S., Melanoma Instituteen_AU
local.contributor.affiliationPritchard, Antonia L., QIMR Berghofer Medical Research Instituteen_AU
local.contributor.affiliationBroit, Natasa, QIMR Berghofer Medical Research Instituteen_AU
local.contributor.affiliationWood, Scott, QIMR Berghofer Medical Research Instituteen_AU
local.contributor.affiliationCarlino, Matteo S., The University of Sydneyen_AU
local.contributor.affiliationLeonard, Conrad, QIMR Berghofer Medical Research Instituteen_AU
local.contributor.affiliationKoufariotis, Lambros T., QIMR Berghofer Medical Research Instituteen_AU
local.contributor.affiliationNathan, Vaishnavi, QIMR Berghofer Medical Research Instituteen_AU
local.contributor.affiliationBeasley, Aaron B., Edith Cowan Universityen_AU
local.contributor.affiliationMann, Graham, College of Health and Medicine, ANUen_AU
local.contributor.authoruidMann, Graham, u1086065en_AU
local.description.notesImported from ARIESen_AU
local.identifier.absfor321103 - Cancer geneticsen_AU
local.identifier.absseo280103 - Expanding knowledge in the biomedical and clinical sciencesen_AU
local.identifier.ariespublicationa383154xPUB13591en_AU
local.identifier.citationvolume11en_AU
local.identifier.doi10.1038/s41467-020-16276-8en_AU
local.identifier.thomsonIDWOS:000536569900006
local.publisher.urlhttps://www.nature.com/en_AU
local.type.statusPublished Versionen_AU

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