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The genetic evolution of metastatic uveal melanoma

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DOI

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Clinical and genomic features of adult and paediatric acute leukaemias with ophthalmic manifestations

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Real-World Impact of Immune Checkpoint Inhibitors in Metastatic Uveal Melanoma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Global microRNA profiling of metastatic conjunctival melanoma

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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