Annotation Detail
Information
- Associated Genes
- GNAS
- Associated Variants
-
GNAS p.Leu131= (p.L131=)
(
ENST00000306090.12,
ENST00000306120.4,
ENST00000313949.11,
ENST00000349036.9,
ENST00000371075.7,
ENST00000371098.6,
ENST00000371100.9,
ENST00000371102.8,
ENST00000419558.7,
ENST00000423897.7,
ENST00000453292.7,
ENST00000462499.6,
ENST00000467227.6,
ENST00000472183.6,
ENST00000482112.6,
ENST00000491348.5,
ENST00000493744.5,
ENST00000657090.1,
ENST00000663479.2,
ENST00000676826.2 )
GNAS p.Leu131= (p.L131=) ( ENST00000306090.12, ENST00000306120.4, ENST00000313949.11, ENST00000349036.9, ENST00000371075.7, ENST00000371098.6, ENST00000371100.9, ENST00000371102.8, ENST00000419558.7, ENST00000423897.7, ENST00000453292.7, ENST00000462499.6, ENST00000467227.6, ENST00000472183.6, ENST00000482112.6, ENST00000491348.5, ENST00000493744.5, ENST00000657090.1, ENST00000663479.2, ENST00000676826.2 ) - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- 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, smoking history, histology and GNAS1 T393C polymorphism as predictive marker of PFS (P=0.04, P<0.001, P<0.001 and P=0.005). Multivariate analysis of factors, including smoking history, performance status score, histology, GNAS1 T393C polymorphism demonstrated that GNAS1 T393C polymorphism was correlated independently with PFS (P=0.007). The data suggests the role of GNAS1 T393C CC genotype as a poor predictive marker both of DCR and PFS in advanced NSCLC patients treated with tyrosine kinase inhibitor.
- Variant Origin
- Common Germline
- Variant Origin
- Common Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1995
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2319
- Variant URL
- https://civic.genome.wustl.edu/links/variants/877
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Erlotinib,Gefitinib
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 24758907