Article
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Nature genetics - 1 Sept 2015
Krauthammer Michael, Kong Yong, Bacchiocchi Antonella, Evans Perry, Pornputtapong Natapol, Wu Cen, McCusker Jamie P., Ma Shuangge, Cheng Elaine, Straub Robert, Serin Merdan, Bosenberg Marcus, Ariyan Stephan, Narayan Deepak, Sznol Mario, Kluger Harriet M, Mane Shrikant, Schlessinger Joseph, Lifton Richard P, Halaban Ruth
Abstract excerpt
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...
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