|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
GNAS mutation-positive adenomas belonged exclusively to the low-CNA group, whereas a subgroup of GNAS mutation-negative adenomas had a high degree of genomic disruption.
|
29474559 |
2018 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Activating somatic mutations of the GNAS gene (known as gsp oncogene) which encodes the stimulatory G protein alpha-subunit (Gsα) have been found in a small number of adrenocortical secreting adenomas and rarely in PMAH.
|
30075949 |
2018 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
GNAS mutations contribute significantly to the development of a subset of serrated adenomas and CRCs.
|
28164369 |
2017 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Molecular analyses revealed the gene mutations of GNAS in 6 (38%) of 16 DNGPs (4 [57%] adenomas, 1 [16%] NUMP, and 1 [33%] invasive adenocarcinoma) and APC in 4 of 15 (27%) DNGPs: no adenomas, 2 (33%) NUMPs, and 2 (67%) invasive adenocarcinomas.
|
27984236 |
2017 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We observed recurrent BRAFV600E mutations in papillary craniopharyngiomas, CTNNB1 mutations in adamantinomatous craniopharyngiomas, and activating GNAS mutations in growth hormone-secreting adenomas.
|
28486603 |
2017 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Tubular, lactating, and ductal adenomas are devoid of MED12 Exon2 mutations, and ductal adenomas show recurrent mutations in GNAS and the PI3K-AKT pathway.
|
27438523 |
2017 |
|
Adenoma
|
0.100 |
Biomarker
|
group |
BEFREE |
We sequenced PRKACA, GNAS and CTNNB1 genes in 108 patients, including 60 patients with CPAs (57 with unilateral and three with bilateral adenomas), 13 with nonfunctional adenomas, 12 with adrenocortical carcinomas (ACCs), 15 with primary bilateral macronodular hyperplasia (PBMAH) and eight with aldosterone and cortisol cosecreting adenomas.
|
27296931 |
2016 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Somatic mutations at GNAS are causative in 30-40% of GH-secreting adenomas.
|
26701869 |
2016 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We herein demonstrated for the first time the presence of GNAS mutations in APAs, as well as in some cortisol-secreting adenomas.
|
26743443 |
2016 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Activating GNAS mutations were found in 22 of the 35 pyloric gland adenomas (PGAs; 63%) but in none of the foveolar-type or intestinal-type adenomas or the adenocarcinomas.
|
23208952 |
2013 |
|
Adenoma
|
0.100 |
Biomarker
|
group |
BEFREE |
GNAS R201C alone was not sufficient to induce tumourigenesis by 12 months, but there was a significant increase in adenoma formation when Gpa33(tm1(GnasR201C)Wtsi/+) mice were bred onto an Apc(Min/+) background.
|
20531296 |
2010 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Therefore, genetic and epigenetic alterations of the GNAS gene, with subsequent dysregulation of the cAMP pathway, appear, to date, the only molecular hallmark of most GH-secreting adenomas.
|
20398730 |
2010 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Activating mutations lead to somatotroph, thyroid, adrenal and gonadal adenomas or the McCune-Albright syndrome and recently the T399C polymorphism in GNAS1 has been reported to be associated with malignancies.
|
19189654 |
2009 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Although these neoplasias are monoclonal in origin, mutations of GNAS1, the gene encoding the alpha subunit of the stimulatory G-protein, Gs, are the only mutational changes unequivocally associated with growth hormone (GH)-secreting adenomas.
|
19407505 |
2009 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In the present study, we examined PDE11A expression in normal adrenocortical tissue, sporadic tumors, and hyperplasias without PDE11A mutations, and primary pigmented nodular adrenocortical disease (PPNAD) and adenomas from patients with PRKAR1A and a single tumor with a GNAS mutation.
|
18491255 |
2008 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The GNAS gene is imprinted in normal pituitary, and activating mutations within Gsalpha, referred to as the gsp oncogene, are almost invariably associated with the maternal expressed allele in somatotrophic adenomas.
|
16001328 |
2005 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
LHGDN |
Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors.
|
15181091 |
2004 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Seventeen of 32 (53.1%) tumours showed somatic-activating mutations of GNAS1: 16 (53.3%) of 30 GH-secreting adenomas and one of two GH and PRL-secreting adenomas.
|
12641630 |
2003 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
While common oncogenes, such as Ras, are only exceptionally involved, the only mutations identified in a significant proportion of pituitary tumors, and particular in GH-secreting adenomas, occur in the Gsalpha gene (GNAS1) and cause constitutive activation of the cAMP pathway (gsp oncogene).
|
14530508 |
2003 |
|
Adenoma
|
0.100 |
Biomarker
|
group |
BEFREE |
To establish if GNAS1 is imprinted in human endocrine tissues, we selected 14 thyroid, 10 granulosa cell, 13 pituitary (3 normal glands, 7 GH-secreting adenomas, and 3 nonfunctioning adenomas), 3 adrenal, and 11 lymphocyte samples shown to be heterozygous for a known polymorphism in exon 5.
|
12364467 |
2002 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In the pituitary gland, activating mutations of the GNAS1 (Gsalpha) gene at Gln227 have been identified in adrenocorticotrophin secreting, growth hormone secreting, and prolactin secreting adenomas.
|
11836449 |
2002 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
GHRH-R mutations are absent or rare in somatotrophinomas, and other mechanisms must explain the somatotroph cell proliferation in the adenomas that lack activating mutations in the GNAS1 gene.
|
11298081 |
2001 |
|
Adenoma
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Compared to 85 'spontaneous' human thyroid tumors, the radiation-associated cases: (1) show a similar overall frequency of ras and gsp mutations (about 30% and 6% respectively); (2) present a similar frequency of mutation of the three ras genes without any predominance in adenomas and papillary carcinomas and (3) all Ki-ras mutations were found in papillary carcinomas (4/15). ras and gsp genes were never found mutated simultaneously, suggesting an alternative role for both oncogenes in the thyroid tumorigenic radiation-associated process.
|
7630645 |
1995 |