Back to Search
Start Over
RASopathy Gene Mutations in Melanoma.
- Source :
-
The Journal of investigative dermatology [J Invest Dermatol] 2016 Sep; Vol. 136 (9), pp. 1755-1759. Date of Electronic Publication: 2016 May 25. - Publication Year :
- 2016
-
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.<br />Competing Interests: The authors state no conflict of interest.<br /> (Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Germ-Line Mutation
Humans
MAP Kinase Signaling System
Melanoma physiopathology
Mutation genetics
Sensitivity and Specificity
Signal Transduction genetics
Skin Neoplasms physiopathology
Genetic Predisposition to Disease epidemiology
Melanoma genetics
Skin Neoplasms genetics
ras Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1523-1747
- Volume :
- 136
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- The Journal of investigative dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 27236105
- Full Text :
- https://doi.org/10.1016/j.jid.2016.05.095