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Region Hovedstaden - en del af Københavns Universitetshospital
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The genetic evolution of metastatic uveal melanoma

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DOI

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

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

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  4. Prevalence and histopathological signatures of optic disc drusen based on microscopy of 1713 enucleated eyes

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  5. Reply: Is automated screening for DR indeed not yet ready as stated by Grauslund et al?

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Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftNature Genetics
Vol/bind51
Udgave nummer7
Sider (fra-til)1123-1130
Antal sider8
ISSN1061-4036
DOI
StatusUdgivet - jul. 2019

ID: 58939250