期刊
NATURE COMMUNICATIONS
卷 11, 期 1, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41467-020-16276-8
关键词
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资金
- National Health and Medical Research Council (NHMRC) [1093017]
- Walking On Sunshine Foundation
- Memorial and Civic Solutions
- Fight for Sight, Denmark
- Highland Island Enterprise [HMS9353763]
- NHMRC [1111678, 1139071, 1117663]
- University of Sydney
- Medical Foundation
- Melanoma Institute Australia
- Ainsworth Foundation
- National Health and Medical Research Council of Australia [1111678, 1117663, 1139071] Funding Source: NHMRC
Uveal melanoma (UM) is the most common intraocular tumour in adults and despite surgical or radiation treatment of primary tumours, 50% of patients progress to metastatic disease. Therapeutic options for metastatic UM are limited, with clinical trials having little impact. Here we perform whole-genome sequencing (WGS) of 103 UM from all sites of the uveal tract (choroid, ciliary body, iris). While most UM have low tumour mutation burden (TMB), two subsets with high TMB are seen; one driven by germline MBD4 mutation, and another by ultraviolet radiation (UVR) exposure, which is restricted to iris UM. All but one tumour have a known UM driver gene mutation (GNAQ, GNA11, BAP1, PLCB4, CYSLTR2, SF3B1, EIF1AX). We identify three other significantly mutated genes (TP53, RPL5 and CENPE).
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