Mutational profile of GNAQQ209 in human tumors.

<h4>Background</h4>Frequent somatic mutations have recently been identified in the ras-like domain of the heterotrimeric G protein alpha-subunit (GNAQ) in blue naevi 83%, malignant blue naevi (50%) and ocular melanoma of the uvea (46%). The mutations exclusively affect codon 209 and resu...

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Autores principales:	Simona Lamba, Lara Felicioni, Fiamma Buttitta, Fonnet E Bleeker, Sara Malatesta, Vincenzo Corbo, Aldo Scarpa, Monica Rodolfo, Margaret Knowles, Milo Frattini, Antonio Marchetti, Alberto Bardelli
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2009
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/2d88680c0dff4111a21046556cc7fe9c
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spelling	oai:doaj.org-article:2d88680c0dff4111a21046556cc7fe9c2021-11-25T06:20:41ZMutational profile of GNAQQ209 in human tumors.1932-620310.1371/journal.pone.0006833https://doaj.org/article/2d88680c0dff4111a21046556cc7fe9c2009-08-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/19718445/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Frequent somatic mutations have recently been identified in the ras-like domain of the heterotrimeric G protein alpha-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.<h4>Methodology</h4>To assess if the mutations are present in other tumor types we performed a systematic mutational profile of the GNAQ exon 5 in a panel of 922 neoplasms, including glioblastoma, gastrointestinal stromal tumors (GIST), acute myeloid leukemia (AML), blue naevi, skin melanoma, bladder, breast, colorectal, lung, ovarian, pancreas, and thyroid carcinomas.<h4>Principal findings</h4>We detected the previously reported mutations in 6/13 (46%) blue naevi. Changes affecting Q209 were not found in any of the other tumors. Our data indicate that the occurrence of GNAQ mutations display a unique pattern being present in a subset of melanocytic tumors but not in malignancies of glial, epithelial and stromal origin analyzed in this study.Simona LambaLara FelicioniFiamma ButtittaFonnet E BleekerSara MalatestaVincenzo CorboAldo ScarpaMonica RodolfoMargaret KnowlesMilo FrattiniAntonio MarchettiAlberto BardelliPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 4, Iss 8, p e6833 (2009)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Simona Lamba Lara Felicioni Fiamma Buttitta Fonnet E Bleeker Sara Malatesta Vincenzo Corbo Aldo Scarpa Monica Rodolfo Margaret Knowles Milo Frattini Antonio Marchetti Alberto Bardelli Mutational profile of GNAQQ209 in human tumors.
description	<h4>Background</h4>Frequent somatic mutations have recently been identified in the ras-like domain of the heterotrimeric G protein alpha-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.<h4>Methodology</h4>To assess if the mutations are present in other tumor types we performed a systematic mutational profile of the GNAQ exon 5 in a panel of 922 neoplasms, including glioblastoma, gastrointestinal stromal tumors (GIST), acute myeloid leukemia (AML), blue naevi, skin melanoma, bladder, breast, colorectal, lung, ovarian, pancreas, and thyroid carcinomas.<h4>Principal findings</h4>We detected the previously reported mutations in 6/13 (46%) blue naevi. Changes affecting Q209 were not found in any of the other tumors. Our data indicate that the occurrence of GNAQ mutations display a unique pattern being present in a subset of melanocytic tumors but not in malignancies of glial, epithelial and stromal origin analyzed in this study.
format	article
author	Simona Lamba Lara Felicioni Fiamma Buttitta Fonnet E Bleeker Sara Malatesta Vincenzo Corbo Aldo Scarpa Monica Rodolfo Margaret Knowles Milo Frattini Antonio Marchetti Alberto Bardelli
author_facet	Simona Lamba Lara Felicioni Fiamma Buttitta Fonnet E Bleeker Sara Malatesta Vincenzo Corbo Aldo Scarpa Monica Rodolfo Margaret Knowles Milo Frattini Antonio Marchetti Alberto Bardelli
author_sort	Simona Lamba
title	Mutational profile of GNAQQ209 in human tumors.
title_short	Mutational profile of GNAQQ209 in human tumors.
title_full	Mutational profile of GNAQQ209 in human tumors.
title_fullStr	Mutational profile of GNAQQ209 in human tumors.
title_full_unstemmed	Mutational profile of GNAQQ209 in human tumors.
title_sort	mutational profile of gnaqq209 in human tumors.
publisher	Public Library of Science (PLoS)
publishDate	2009
url	https://doaj.org/article/2d88680c0dff4111a21046556cc7fe9c
work_keys_str_mv	AT simonalamba mutationalprofileofgnaqq209inhumantumors AT larafelicioni mutationalprofileofgnaqq209inhumantumors AT fiammabuttitta mutationalprofileofgnaqq209inhumantumors AT fonnetebleeker mutationalprofileofgnaqq209inhumantumors AT saramalatesta mutationalprofileofgnaqq209inhumantumors AT vincenzocorbo mutationalprofileofgnaqq209inhumantumors AT aldoscarpa mutationalprofileofgnaqq209inhumantumors AT monicarodolfo mutationalprofileofgnaqq209inhumantumors AT margaretknowles mutationalprofileofgnaqq209inhumantumors AT milofrattini mutationalprofileofgnaqq209inhumantumors AT antoniomarchetti mutationalprofileofgnaqq209inhumantumors AT albertobardelli mutationalprofileofgnaqq209inhumantumors
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Mutational profile of GNAQQ209 in human tumors.

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