Gene

GNAS

GNAS complex locus

Explore in graph →CI-GENE-00003199HGNC:4392 ENSG00000087460 NCBI 2778 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (17)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–17 of 17 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
BRAF V600E + GNAS R201CBRAF GNAS1
Cetuximab + Irinotecan + VemurafenibCombination	Malignant Colorectal NeoplasmCURATED_BROADER

Cohorts

Alteration frequency by cohort (124)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved124 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Upper Tract Urothelial Carcinoma PDX (MSK, Nat Commun 2020) utuc_pdx_msk_2019	Renal Pelvis and Ureter Urothelial Carcinoma	Ssm

Literature

Linked publications (13)

25 per page, newest first.

pubmedPublishedShowing 1–13 of 13 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Phase IB Study of Vemurafenib in Combination with Irinotecan and Cetuximab in Patients with Metastatic Colorectal Cancer with BRAFV600E Mutation.
· Cancer Discov · 2016 · PMID 27729313 · validated civic_curation pubmed
The T393C polymorphism in the gene GNAS1 of G protein is associated with survival of patients with invasive breast carcinoma.
· Breast Cancer Res Treat · 2007 · PMID 17186357 · validated civic_curation pubmed
The T393C polymorphism of the G alpha s gene (GNAS1) is a novel prognostic marker in bladder cancer.
· Cancer Epidemiol Biomarkers Prev · 2005 · PMID 15824158 · validated civic_curation pubmed
GNAS1 T393C polymorphism and survival in patients with sporadic colorectal cancer.
· Clin Cancer Res · 2005 · PMID 16033819 · validated

GNAS c.393T>C9
(prognostic)	Breast Carcinoma	Prognostic	B	Supports Poor Outcome	4	accepted	EID1997 This study showed that the carriers of the T allele had a significantly less favourable course of the disease when compared to carriers of the homozygous CC genotype. GNAS 393C homozygous patients of … (full text at CIViC) PMID 17186357 · Otterbach et al., 2007 · Open in CIViC	civic
〃	Bladder Urothelial Carcinoma	Prognostic	B	Supports Poor Outcome	4	accepted	EID2892 This study demostrated that the progression-free survival, metastasis-free survival, and cancer-specific survival was significantly increased in patients with T393 homozygosity i.e. TT genotypes (56%,… (full text at CIViC) PMID 15824158 · Frey et al., 2005 · Open in CIViC	civic
〃	Malignant Colorectal NeoplasmCURATED_BROADER	Prognostic	B	Supports Better Outcome	4	accepted	EID2893 In a retrospective study of 151 patients with sporadic colorectal cancer, 5-year survival rate was significantly higher in patients with International Union Against Cancer (UICC) stages I to II (mean … (full text at CIViC) PMID 16033819 · Frey et al., 2005 · Open in CIViC	civic
〃	Clear Cell Renal Cell Carcinoma	Prognostic	B	Supports Better Outcome	4	accepted	EID2896 In this study, Kaplan-Meier curves for tumor progression, development of metastasis, and tumor-related death showed a significant association of the T393C polymorphism with outcome (5-year cancer-spec… (full text at CIViC) PMID 16467086 · Frey et al., 2006 · Open in CIViC	civic
〃	Chronic Lymphocytic Leukemia	Prognostic	B	Supports Better Outcome	4	accepted	EID2897 In a retrospective study of 144 patients with B-cell chronic lymphocytic leukemia, the median progression-free survival was significantly different between GNAS T393C genotypes (TT 130 months; TC 100 … (full text at CIViC) PMID 17020971 · Frey et al., 2006 · Open in CIViC	civic
〃	Melanoma	Prognostic	B	Supports Poor Outcome	4	accepted	EID2898 This study showed that GNAS1 T393C SNP represents a genetic host factor for predicting tumor progression in patients with malignant melanoma. Carriers of the C-allele showed a significantly more sever… (full text at CIViC) PMID 21156401 · Frey et al., 2010 · Open in CIViC	civic
〃	Intrahepatic Cholangiocarcinoma	Prognostic	B	Supports Poor Outcome	3	accepted	EID1996 Intrahepatic cholangiocarcinomas of patients with homozygous TT genotypes revealed a higher proliferation rate and a lower apoptotic rate.This study demonstrated a significant association of both dise… (full text at CIViC) PMID 17356712 · Schmitz et al., 2007 · Open in CIViC	civic
Cisplatin + FluorouracilCombination	Malignant Esophageal Neoplasm	Predictive	B	Supports Resistance	4	accepted	EID2895 Overall, 63% of the patients in the T-allele group (TT + CT), i.e with the T393C genotype, were minor responders with more than 10% residual vital tumor cells in resection specimens, whereas T(-) geno… (full text at CIViC) PMID 19274060 · Alakus et al., 2009 · Open in CIViC	civic
Erlotinib + GefitinibSubstitutes	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	B	Supports Resistance	2	accepted	EID1995 The disease control rate of patients with GNAS1 T393C CC genotype was lower than that of patients with variant genotype (TT or CT) (46.2% vs 73.8%, P=0.039). Univariate analysis identified gender, smo… (full text at CIViC) PMID 24758907 · Hong et al., 2014 · Open in CIViC	civic

GNAS Mutation2
Palbociclib	Pseudomyxoma Peritonei	Predictive	B	Supports Sensitivity Response	3	accepted	EID13146 This paper details a prospective single-arm personalized cancer therapy study with n = 16 patients. The disease type was peritoneal mucinous carcinomatosis, predominantly of appendiceal origin. Palboc… (full text at CIViC) PMID 39413348 · Weitz et al., 2025 · Open in CIViC	civic
〃	Malignant Appendix NeoplasmALIAS	Predictive	D	Supports Sensitivity Response	3	accepted	EID13145 In ex vivo human tumor slice models of mucinous cancers, GNAS-mutant tumors showed greater sensitivity to palbociclib than GNAS wild-type (WT) tumors, with significantly reduced proliferation followin… (full text at CIViC) PMID 39413348 · Weitz et al., 2025 · Open in CIViC	civic

GNAS R201H2
Radioactive Iodine	Thyroid Gland Follicular CarcinomaALIAS	Predictive	C	Supports Sensitivity Response	3	accepted	EID3045 A 79 year old patient with prior 5-year history of Graves' disease presented with follicular thyroid carcinoma. Two mutations NRAS p.Q61K and GNAS p.R201H were detected. The thyroid cancer manifested … (full text at CIViC) PMID 26788326 · Lu et al., 2016 · Open in CIViC	civic
Trametinib	Malignant Appendix NeoplasmALIAS	Predictive	C	Supports Sensitivity Response	2	submitted	EID8676 Case of a patient with appendiceal adenocarcinoma with mucinous peritoneal carcinomatosis who was treated with trametinib upon identification of a GNAS R201H mutation and had clinical benefit for 4 mo… (full text at CIViC) PMID 28868010 · Ang et al., 2017 · Open in CIViC	civic