Journal
NATURE GENETICS
Volume 51, Issue 7, Pages 1123-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/s41588-019-0440-9
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Categories
Funding
- Melanoma Research Foundation
- National Cancer Institute K22 [CA217997]
- Melanoma Research Alliance
- Dermatology Foundation
- Fight for Sight Denmark
- Danish Eye Research Foundation
- Research Fund of Rigshospitalet
- Danish Medical Research Grant/Hojmosegard Grant
- Research to Prevent Blindness
- National Cancer Institute [1R35CA220481]
- Terri Patters Foundation
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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.
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