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

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

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

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

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

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

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

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

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

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  5. Global microRNA profiling of metastatic conjunctival melanoma

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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