Article
Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma.
Nature genetics - 1 Jun 2016
Moore Amanda R, Ceraudo Emilie, Sher Jessica J, Guan Youxin, Shoushtari Alexander N, Chang Matthew T, Zhang Jenny Q, Walczak Edward G, Kazmi Manija A, Taylor Barry S, Huber Thomas, Chi Ping, Sakmar Thomas P, Chen Yu
Abstract excerpt
Uveal melanomas are molecularly distinct from cutaneous melanomas and lack mutations in BRAF, NRAS, KIT, and NF1. Instead, they are characterized by activating mutations in GNAQ and GNA11, two highly homologous α subunits of Gαq/11 heterotrimeric G proteins, and in PLCB4 (phospholipase C β4), the downstream effector of Gαq signaling. We analyzed genomics data from 136 uveal melanoma samples and found a recurrent...
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