Matches in SemOpenAlex for { <https://semopenalex.org/work/W3025361106> ?p ?o ?g. }
- W3025361106 abstract "Abstract 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 )." @default.
- W3025361106 created "2020-05-21" @default.
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- W3025361106 date "2020-05-15" @default.
- W3025361106 modified "2023-10-15" @default.
- W3025361106 title "Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours" @default.
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- W3025361106 doi "https://doi.org/10.1038/s41467-020-16276-8" @default.
- W3025361106 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7229209" @default.