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
- The creation of a cell line model (HEK293) with MET exon 14 deletion (using the CRISPR/Cas9 system) led to enhanced cellular growth and sensitivity to the MET inhibitor crizotinib. MET exon 14 deletion results in an in-frame deletion in the MET protein. Recurrent splice site mutations that result in exon 14 skipping have been observed in ~3% of all lung cancers.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/736
- 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
- Crizotinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 26547802
Drugs
Drug Name | Sensitivity | Supported |
---|---|---|
Crizotinib | Sensitivity | true |