Abstract
Uveal melanoma is characterized by recurrent mutations in GNAQ, GNA11, SF3B1, and EIF1AX, as well as a low total mutational burden. The frequency and clinical significance of these mutations in non-uveal melanoma and other cancers is not well described. We identified that GNAQ/GNA11 mutations occur in 0.5–1% of non-uveal melanomas and are essentially melanoma-specific. Further, these mutations are associated with a lack of other typical melanoma mutations (BRAF, NRAS, KIT, NF1), a low mutational burden, and, in a small subset, lack of response to immunotherapy. We suggest that GNAQ/GNA11 mutations characterize an uncommon but distinct subtype of non-uveal melanomas.
Publication types
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Comparative Study
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Letter
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Eukaryotic Initiation Factor-1 / genetics*
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GTP-Binding Protein alpha Subunits / genetics*
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GTP-Binding Protein alpha Subunits, Gq-G11 / genetics*
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Genes, Neoplasm
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Humans
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Immunotherapy
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Melanoma / epidemiology
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Melanoma / genetics*
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Melanoma / therapy
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Mutation*
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Mutation, Missense
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Neoplasms / epidemiology
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Neoplasms / genetics*
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Phosphoproteins / genetics*
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Point Mutation
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Prognosis
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RNA Splicing Factors / genetics*
Substances
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Eukaryotic Initiation Factor-1
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GNA11 protein, human
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GNAQ protein, human
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GTP-Binding Protein alpha Subunits
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Phosphoproteins
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RNA Splicing Factors
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SF3B1 protein, human
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eukaryotic peptide initiation factor-1A
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GTP-Binding Protein alpha Subunits, Gq-G11