Activating genomic alterations in the Gs alpha gene (GNAS) in 274 694 tumors.
GNAS
gsp mutations
activating genetic alterations
oncogene
tumorigenesis
Journal
Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
08
02
2020
revised:
16
04
2020
accepted:
20
04
2020
pubmed:
28
4
2020
medline:
7
7
2021
entrez:
28
4
2020
Statut:
ppublish
Résumé
Activating point mutations in two codons (R201 and Q227) in the alpha subunit of the stimulatory GTP binding protein (GNAS) gene-coined gsp mutations-were originally reported in growth hormone secreting pituitary adenomas. In these tumor types, gsp activating mutations were associated with uncontrolled intracellular cAMP accumulation leading to cellular proliferation and tumor formation. Since the original description of gsp mutations in pituitary and later thyroid neoplasia, many more tumors were genotyped for these specific activating mutations. In this paradigm, GNAS is an oncogene that can be activated by other molecular mechanisms, such as DNA amplification and translocation. Herein, we describe the largest account to date of tumor types that harbor pathogenic GNAS genomic alterations (GAs) including the "classical" gsp activating point mutations, delineate some common features of these tumors, and speculate as to the possible mechanisms whereby GNAS activating GAs are associated with the various stages of tumorigenesis.
Substances chimiques
Chromogranins
0
GNAS protein, human
EC 3.6.1.-
GTP-Binding Protein alpha Subunits, Gs
EC 3.6.5.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
503-516Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
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