Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK p.Phe1174Leu (p.F1174L)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Phe1174Leu (p.F1174L) ( ENST00000618119.4, ENST00000642122.1, ENST00000389048.8 ) - Associated Disease
- neuroblastoma
- Source Database
- CIViC Evidence
- Description
- Cells lines expressing ALK harboring the F1174L mutation are less sensitive to growth inhibition by crizotinib than cells expressing the R1275Q mutation. The authors conclude that this effect should be surmountable with higher doses of crizotinib and/or with higher-affinity inhibitors.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/125
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1
- Variant URL
- https://civic.genome.wustl.edu/links/variants/8
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Neuroblastoma
- Evidence Direction
- Supports
- Drug
- Crizotinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 22072639
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crizotinib | Resitance or Non-Reponse | true |