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Start Over Author "Evans, Perry" Journal nature genetics
3 results on '"Evans, Perry"'

2. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

Author

Krauthammer, Michael, Kong, Yong, Ha, Byung Hak, Evans, Perry, Bacchiocchi, Antonella, McCusker, Jamie P, Cheng, Elaine, Davis, Matthew J, Goh, Gerald, Choi, Murim, Ariyan, Stephan, Narayan, Deepak, Dutton-Regester, Ken, Capatana, Ana, Holman, Edna C, Bosenberg, Marcus, Sznol, Mario, Kluger, Harriet M, Brash, Douglas E, Stern, David F, Materin, Miguel A, Lo, Roger S, Mane, Shrikant, Ma, Shuangge, Kidd, Kenneth K, Hayward, Nicholas K, Lifton, Richard P, Schlessinger, Joseph, Boggon, Titus J, and Halaban, Ruth

Published
2012
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3. Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.

Author

Lifton, Richard P, Cheng, Elaine, Halaban, Ruth, McCusker, James P, Ma, Shuangge, Sznol, Mario, Krauthammer, Michael, Serin, Merdan, Evans, Perry, Mane, Shrikant, Bacchiocchi, Antonella, Pornputtapong, Natapol, Narayan, Deepak, Kluger, Harriet M, Bosenberg, Marcus, Kong, Yong, Wu, Cen, Ariyan, Stephan, Schlessinger, Joseph, and Straub, Robert

Subjects
MELANOMA, NEUROFIBROMIN, RAS oncogenes, BRAF genes, GUANOSINE triphosphatase
Abstract

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 most, but not all, melanoma cases. In addition, loss of NF1 did not predict sensitivity to MEK or ERK inhibitors. The rebound pathway, as seen by the induction of phosphorylated MEK, occurred in cells both sensitive and resistant to the studied drugs. We conclude that NF1 is a key tumor suppressor lost in melanomas, and that concurrent RASopathy gene mutations may enhance its role in melanomagenesis. [ABSTRACT FROM AUTHOR]

Published
2015
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