Ontology highlight
ABSTRACT:
SUBMITTER: Krauthammer M
PROVIDER: S-EPMC4916843 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Nature genetics 20150727 9
We report on whole-exome sequencing (WES) of 213 melanomas. Our analysis established NF1, encoding a negative regulator of RAS, as the third most frequently mutated gene in melanoma, after BRAF and NRAS. Inactivating NF1 mutations were present in 46% of melanomas expressing wild-type BRAF and RAS, occurred in older patients and showed a distinct pattern of co-mutation with other RASopathy genes, particularly RASA2. Functional studies showed that NF1 suppression led to increased RAS activation in ...[more]