Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK p.Phe1245Cys (p.F1245C)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Phe1245Cys (p.F1245C) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 ) - Associated Disease
- neuroblastoma
- Source Database
- CIViC Evidence
- Description
- A participant in Children's Oncology Group (COG) study AVDL0912 with measurable neuroblastoma mutated at ALK F1245C was administered crizotinib at 100mg twice daily. The patient showed progressive disease as best response after two 28-day cycles on crizotinib.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1333
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1
- Variant URL
- https://civic.genome.wustl.edu/links/variants/549
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Neuroblastoma
- Evidence Direction
- Supports
- Drug
- Crizotinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 23598171
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crizotinib | Resitance or Non-Reponse | true |