Recurrent inactivating RASA2 mutations in melanoma
A partir d'une analyse de 501 exomes issus d'échantillons tumoraux prélevés sur des patients atteints d'un mélanome, cette étude identifie, dans 5% des cas, des mutations inactivant le gène suppresseur de tumeurs RASA2
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.