|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
Genetic study revealed the mosaic GNAS R201H mutation in the pituitary tissue, confirming a MAS diagnosis.
|
29984378 |
2018 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations-R201H or R201C-in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene.
|
29104223 |
2017 |
|
McCune-Albright Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.
|
23536913 |
2013 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
Constructs expressing the MAS mutation (R201H), the MAS mutation plus the mutations homologous to the yeast suppressors (R201H, F222P/D223V), or the yeast suppressor mutation alone (F222P/D223V) were transfected into HEK293 cells, and basal and receptor-stimulated cAMP levels were measured.
|
23288949 |
2013 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
McCune-Albright syndrome (MAS) is caused by mutations in GNAS (most often R201C or R201H) leading to constitutive cAMP signaling and multiple endocrine dysfunctions, including morphological and functional thyroid involvement.
|
18349068 |
2008 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
BEFREE |
Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome.
|
17101633 |
2006 |
|
McCune-Albright Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.
|
15126527 |
2004 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
A novel GNAS1 mutation, R201G, in McCune-albright syndrome.
|
10571700 |
1999 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene.
|
7751320 |
1995 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
|
1594625 |
1992 |
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.
|
1944469 |
1991 |
|
McCune-Albright Syndrome
|
|
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
|
Acth-Independent Macronodular Adrenal Hyperplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.
|
12727968 |
2003 |
|
Acth-Independent Macronodular Adrenal Hyperplasia
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Neoplasms
|
|
0.730 |
GeneticVariation
|
BEFREE |
Direct sequencing of 9 parosteal osteosarcomas, including 3 of low grade and 6 with dedifferentiation, revealed activating GNAS mutations in 5 cases (55%), distributed as 4 R201C-mutated tumors and 1 tumor with an R201H mutation.
|
24525511 |
2014 |
|
Neoplasms
|
|
0.730 |
GeneticVariation
|
BEFREE |
To ascertain the frequency in colon cancer we employed a sensitive pyrosequencing platform for mutation detection of the R201C and R201H GNAS hotspots in tumor samples representing all clinical stages.
|
24498230 |
2014 |
|
Neoplasms
|
|
0.730 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
Neoplasms
|
|
0.730 |
GeneticVariation
|
CLINVAR |
GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation.
|
21835143 |
2012 |
|
Neoplasms
|
|
0.730 |
GeneticVariation
|
CLINVAR |
GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation.
|
21835143 |
2012 |
|
Neoplasms
|
|
0.730 |
GeneticVariation
|
BEFREE |
Molecular screening failed to find mutations in RAS, TP53, and BRAF hot spots, whereas Arg201His mutation in GNAS gene (gsp oncogene), absent in the previous surgical materials, was detected in the tumor from the last surgery, which was found to be monoclonal.
|
19890024 |
2010 |
|
Squamous cell carcinoma of the head and neck
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Liver carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Mammary Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of lung (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Uterine Cervical Neoplasm
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |