| First Author | Halaban R | Year | 2016 |
| Journal | J Invest Dermatol | Volume | 136 |
| Issue | 9 | Pages | 1755-9 |
| PubMed ID | 27236105 | Mgi Jnum | J:235072 |
| Mgi Id | MGI:5792752 | Doi | 10.1016/j.jid.2016.05.095 |
| Citation | Halaban R, et al. (2016) RASopathy Gene Mutations in Melanoma. J Invest Dermatol 136(9):1755-9 |
| abstractText | 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. |
