Annotation Detail
Information
- Associated Genes
- MET
- Associated Variants
-
MET EXON 14 SKIPPING MUTATION
MET EXON 14 SKIPPING MUTATION - Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- MET exon 14 skipping was modelled in vitro by expressing human MET cDNA with exon 14 deletion in HEK293 cells and mouse MET with homologous exon 15 deletion in NIH3T3 cells. NIH3T3 cells expressing MET with exon 15 deletion showed dose dependent inhibition of cell proliferation upon treatment with capmatinib, with significantly lower cell survival compared to control cells. In addition, HEK293 cells expressing MET with exon 14 deletion had increased ERK phosphorylation, while NIH3T3 cells expressing mouse MET with exon 15 deletion had increased MET phosphorylation and increased anchorage-independent colony formation compared to wt MET.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7797
- Gene URL
- https://civic.genome.wustl.edu/links/genes/52
- Variant URL
- https://civic.genome.wustl.edu/links/variants/324
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Supports
- Drug
- Capmatinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25971938
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Capmatinib | Sensitivity | true |