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The Capital Region of Denmark - a part of Copenhagen University Hospital
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The genetic evolution of metastatic uveal melanoma

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  1. Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

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  2. Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

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  3. Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

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  4. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

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  5. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

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  1. The tolerance of anisometropia

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

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  3. Isolated Ocular Sarcoidosis Mimicking Ring Melanoma

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

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

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Uveal melanoma is a clinically distinct and particularly lethal subtype of melanoma originating from melanocytes in the eye. Here, we performed multi-region DNA sequencing of primary uveal melanomas and their matched metastases from 35 patients. We observed previously unknown driver mutations and established the order in which these and known driver mutations undergo selection. Metastases had genomic alterations distinct from their primary tumors; metastatic dissemination sometimes occurred early during the development of the primary tumor. Our study offers new insights into the genetics and evolution of this melanoma subtype, providing potential biomarkers for progression and therapy.

Original languageEnglish
JournalNature Genetics
Volume51
Issue number7
Pages (from-to)1123-1130
Number of pages8
ISSN1061-4036
DOIs
Publication statusPublished - Jul 2019

ID: 58939250