Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma

@article{Moore2016RecurrentAM,
  title={Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma},
  author={Andrew Robert Moore and Emilie Ceraudo and Jessica J. Sher and Youxin Guan and Alexander N Shoushtari and Matthew Tsu-Yang Chang and Jenny Q. Zhang and Edward Walczak and Manija A. Kazmi and Barry S. Taylor and Thomas Huber and Ping Chen Chi and Thomas P. Sakmar and Yu Sarah Chen},
  journal={Nature Genetics},
  year={2016},
  volume={48},
  pages={675-680}
}
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 mutation in CYSLTR2 (cysteinyl leukotriene receptor 2) encoding a p.Leu129Gln… CONTINUE READING
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