Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
- ALK EML4-ALK G1269A
- Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- 2 out of 7 patients with an acquired resistance to crizotinib had a G1269A mutation. One of these patients also harbored a L1196M mutation. In vitro follow-up showed reduced crizotinib-induced ALK dephosphorylation (293T) and apoptosis (Ba/F3) when EML4-ALK G1269A overexpression was compared to EML4-ALK overexpression in these cell lines.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/765
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1
- Variant URL
- https://civic.genome.wustl.edu/links/variants/308
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Crizotinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 23344087
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crizotinib | Resitance or Non-Reponse | true |