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• W2399524638 abstract "Next-generation sequencing of melanomas has unraveled critical driver genes and genomic abnormalities, mostly defined as occurring at high frequency. In addition, less abundant mutations are present that link melanoma to a set of disorders, commonly called RASopathies. These disorders, which include neurofibromatosis and Noonan and Legius syndromes, harbor germline mutations in various RAS/mitogen-activated protein kinase signaling pathway genes. We highlight shared amino acid substitutions between this set of RASopathy mutations and those observed in large-scale melanoma sequencing data, uncovering a significant overlap. We review the evidence that these mutations activate the RAS/mitogen-activated protein kinase pathway in melanoma and are involved in melanomagenesis. Furthermore, we discuss the observations that two or more RASopathy mutations often co-occur in melanoma and may act synergistically on activating the pathway." @default.
• W2399524638 created "2016-06-24" @default.
• W2399524638 creator A5025057284 @default.
• W2399524638 creator A5063663792 @default.
• W2399524638 date "2016-09-01" @default.
• W2399524638 modified "2023-10-15" @default.
• W2399524638 title "RASopathy Gene Mutations in Melanoma" @default.
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• W2399524638 doi "https://doi.org/10.1016/j.jid.2016.05.095" @default.
• W2399524638 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4992636" @default.
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