Recurrent inactivating RASA2 mutations in melanoma

Rand Arafeh, Nouar Qutob, Rafi Emmanuel, Alona Keren-Paz, Jason Madore, Abdel Elkahloun, James S. Wilmott, Jared J. Gartner, Antonella Di Pizio, Sabina Winograd-Katz, Sivasish Sindiri, Ron Rotkopf, Ken Dutton-Regester, Peter Johansson, Antonia L. Pritchard, Nicola Waddell, Victoria K. Hill, Jimmy C. Lin, Yael Hevroni, Steven A. RosenbergJaved Khan, Shifra Ben-Dor, Masha Y. Niv, Igor Ulitsky, Graham J. Mann, Richard A. Scolyer, Nicholas K. Hayward, Yardena Samuels

Research output: Contribution to journalArticle


Analysis of 501 melanoma exomes identified RASA2, encoding a RasGAP, as a tumor-suppressor gene mutated in 5% of melanomas. Recurrent loss-of-function mutations in RASA2 were found to increase RAS activation, melanoma cell growth and migration. RASA2 expression was lost in ≥30% of human melanomas and was associated with reduced patient survival. These findings identify RASA2 inactivation as a melanoma driver and highlight the importance of RasGAPs in cancer.

Original languageEnglish (US)
Pages (from-to)1408-1410
Number of pages3
JournalNature genetics
Issue number12
StatePublished - Dec 1 2015

ASJC Scopus subject areas

  • Genetics

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  • Cite this

    Arafeh, R., Qutob, N., Emmanuel, R., Keren-Paz, A., Madore, J., Elkahloun, A., Wilmott, J. S., Gartner, J. J., Di Pizio, A., Winograd-Katz, S., Sindiri, S., Rotkopf, R., Dutton-Regester, K., Johansson, P., Pritchard, A. L., Waddell, N., Hill, V. K., Lin, J. C., Hevroni, Y., ... Samuels, Y. (2015). Recurrent inactivating RASA2 mutations in melanoma. Nature genetics, 47(12), 1408-1410.