The genetic evolution of metastatic uveal melanoma
Autor: | Richard Yu, Shanshan Liu, Jingly F. Weier, Boris C. Bastian, Steffen Heegaard, Jens Folke Kiilgaard, Karin Wadt, Mette Bagger, A. Hunter Shain, Darwin Chang, Swapna S. Vemula |
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Rok vydání: | 2018 |
Předmět: |
Uveal Neoplasms
DNA Copy Number Variations Evolution Biology medicine.disease_cause Medical and Health Sciences DNA sequencing Article Evolution Molecular 03 medical and health sciences 0302 clinical medicine Genetic Evolution Genetics medicine Biomarkers Tumor Humans Melanoma Phylogeny 030304 developmental biology Retrospective Studies Neoplastic 0303 health sciences Mutation Tumor Gene Expression Profiling Liver Neoplasms Case-control study Molecular Genomics Biological Sciences medicine.disease Primary tumor 3. Good health Gene expression profiling Gene Expression Regulation Neoplastic Gene Expression Regulation Potential biomarkers Case-Control Studies Cancer research Biomarkers 030217 neurology & neurosurgery Developmental Biology |
Zdroj: | Nature genetics Nature genetics, vol 51, iss 7 |
ISSN: | 1546-1718 |
Popis: | 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 novel driver mutations and established the order in which these and known driver mutations undergo selection. Metastases had genomic alterations distinct from their primary tumors, and 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. Editorial summary: Multi-region sequencing of 35 primary uveal melanomas and their matched metastases yields new insights into the genetics and evolution of these tumors and provides potential biomarkers for progression and therapy. |
Databáze: | OpenAIRE |
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