GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE We found recurrent somatic missense mutations in 22 genes (including PIK3CA, ERBB2, and GNAS) and a widespread APOBEC cytidine deaminase mutagenesis pattern (TCW motif) in both adenocarcinoma (ACC) and squamous cell carcinomas (SCCs). 31624127 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE GNAS mutations are present in colorectal traditional serrated adenomas, serrated tubulovillous adenomas and serrated adenocarcinomas with adverse prognostic features. 28164369 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE Comparisons between SCC and ADC identified differential rates for AR, ER, HER2 and GNAS with an increased presence in ADC (p-values all <0.05). 28536037 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE GNAS mutations are not specific to neoplasms of the gastrointestinal tract, and clinicopathologic correlation is necessary in GNAS-mutated adenocarcinomas in the lung to determine the primary site of origin. 28776576 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
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
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE We separately analysed GNAS in the adenocarcinoma and the IPMN component in the IPMN-associated adenocarcinomas. 25796395 2015
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE Immunohistochemically, all the GNAS-mutated adenocarcinomas diffusely expressed MUC5AC, indicating gastric epithelial differentiation. 25867268 2015
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE All the GNAS-mutated LEGHs were negative for HPV DNA and p16 expression, whereas all the GNAS-mutated adenocarcinomas were positive for HPV DNA and/or p16 expression, implicating GNAS mutations in the development of LEGH and a minor subset of HPV-related cervical adenocarcinomas. 24145653 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE Mutations in GNAS were detected in 16 (39%) IPMNs and 2 (22%) IPMNs with adenocarcinoma. 24938521 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE The current study suggests that GNAS-mutated villous adenomas may not necessarily be direct precursors of associated adenocarcinomas. 24470207 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE The GNAS mutation is not observed in conventional ductal adenocarcinomas of the pancreas. 24498386 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
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
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE Activating GNAS mutations were found in 20 of the 24 villous adenomas (83%) but were absent in all the other tumours, except for one tubulovillous adenoma (3%) and two adenocarcinomas (3%). 22374786 2012
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE In eight cases, we could investigate invasive adenocarcinomas that developed in association with IPMNs containing GNAS mutations. 21775669 2011