Annotation Detail
Information
- Associated Genes
- GNAS
- Associated Variants
-
GNAS p.Arg844Cys (p.R844C)
(
ENST00000470512.6,
ENST00000467227.6,
ENST00000476935.6,
ENST00000485673.6,
ENST00000488546.6,
ENST00000492907.6,
ENST00000371075.7,
ENST00000371095.7,
ENST00000603546.2,
ENST00000481039.6,
ENST00000469431.6,
ENST00000482112.6,
ENST00000371102.8,
ENST00000488652.6,
ENST00000371100.9,
ENST00000480232.6,
ENST00000354359.12,
ENST00000371085.8,
ENST00000480975.5,
ENST00000464788.6,
ENST00000477931.5,
ENST00000604005.6,
ENST00000472183.6,
ENST00000478585.6,
ENST00000419558.7,
ENST00000683015.1,
ENST00000265620.11,
ENST00000306090.12,
ENST00000313949.11,
ENST00000349036.9,
ENST00000453292.7,
ENST00000682803.1,
ENST00000676826.2,
ENST00000462499.6,
ENST00000667293.2,
ENST00000663479.2,
ENST00000657090.1,
ENST00000656419.1,
ENST00000467321.6,
ENST00000468895.6 )
GNAS p.Arg844Cys (p.R844C) ( ENST00000371095.7, ENST00000265620.11, ENST00000306090.12, ENST00000313949.11, ENST00000349036.9, ENST00000354359.12, ENST00000371075.7, ENST00000371085.8, ENST00000480232.6, ENST00000371100.9, ENST00000371102.8, ENST00000419558.7, ENST00000453292.7, ENST00000462499.6, ENST00000464788.6, ENST00000467227.6, ENST00000467321.6, ENST00000468895.6, ENST00000469431.6, ENST00000470512.6, ENST00000472183.6, ENST00000476935.6, ENST00000477931.5, ENST00000683015.1, ENST00000682803.1, ENST00000676826.2, ENST00000667293.2, ENST00000663479.2, ENST00000657090.1, ENST00000656419.1, ENST00000604005.6, ENST00000603546.2, ENST00000492907.6, ENST00000488652.6, ENST00000488546.6, ENST00000485673.6, ENST00000482112.6, ENST00000481039.6, ENST00000480975.5, ENST00000478585.6 ) - Associated Disease
- colorectal cancer
- Source Database
- CIViC Evidence
- Description
- Phase 1b study of vemurafenib, cetuximab and irinotecan in 19 BRAF V600E mutant colorectal cancer patients. cfDNA panel sequencing was performed in 10 patients after disease progression. One patient acquired a novel GNAS1 R201C mutation at disease progression.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1906
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2319
- Variant URL
- https://civic.genome.wustl.edu/links/variants/826
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Colorectal Cancer
- Evidence Direction
- Supports
- Drug
- Irinotecan,Vemurafenib,Cetuximab
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 27729313
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Cetuximab | Resitance or Non-Reponse | true |
| Irinotecan | Resitance or Non-Reponse | true |
| Vemurafenib | Resitance or Non-Reponse | true |