Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

Mutations in BRAF and NRAS that lead to constitutive activation of MAPK signalling have been found at high frequencies in many melanomas, both benign and malignant. However, they have not been found in uveal melanomas (arising from in the cells that give colour to the eye) or in blue naevi melanomas (a type of benign blue–black mole). Now a genetic screen of biopsy samples shows that these melanoma subtypes instead show frequent activating mutations in the G protein α-subunit GNAQ, also leading to the activation of the MAPK pathway. This identifies signalling components downstream of GNAQ as potential therapeutic targets.