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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

The genetic evolution of metastatic uveal melanoma

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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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.

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

ID: 58939250