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mutational profile of gnaqq209 in human tumors在人类肿瘤gnaqq209突变的状况
Mutational Profile of GNAQQ209 in Human Tumors 1 2 2 3 2 4 Simona Lamba , Lara Felicioni , Fiamma Buttitta , Fonnet E. Bleeker , Sara Malatesta , Vincenzo Corbo , 4 5 6 5,7 2 Aldo Scarpa , Monica Rodolfo , Margaret Knowles , Milo Frattini , Antonio Marchetti , Alberto Bardelli1,8* 1 Laboratory of Molecular Genetics, Institute for Cancer Research and Treatment, University of Torino Medical School, University of Torino, Medical School Candiolo (TO), Torino, Italy, 2 Clinical Research Center, Center of Excellence on Aging, University-Foundation, Chieti, Italy, 3 Neurosurgical Center Amsterdam, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands, 4 Department of Pathology, Section of Anatomic Pathology, University of Verona, Verona, Italy, 5 Department of Experimental Oncology, Istituto Nazionale Tumori, Milan, Italy, 6 Section of Experimental Oncology, Leeds Institute for Molecular Medicine, Leeds, United Kingdom, 7 Laboratory of Molecular Diagnostic Institute of Pathology, Locarno, Switzerland, 8 Fondazione Italiana per la Ricerca sul Cancro (FIRC) Institute of Molecular Oncology, Milan, Italy Abstract Background: Frequent somatic mutations have recently been identified in the ras-like domain of the heterotrimeric G protein a-subunit (GNAQ) in blue naevi 83%, malignant blue naevi (50%) and ocular melanoma of the uvea (46%). The mutations exclusively affect codon 209 and result in GNAQ constitutive activation which, in turn, acts as a dominant oncogene. Methodology: To assess if the muta
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