Annotation Detail
Information
- Associated Genes
- KRAS
- Associated Variants
-
KRAS p.Gly12Val (p.G12V)
(
ENST00000688940.1,
ENST00000692768.1,
ENST00000256078.10,
ENST00000311936.8,
ENST00000556131.2,
ENST00000557334.6,
ENST00000685328.1,
ENST00000686969.1,
ENST00000693229.1 )
KRAS p.Gly12Val (p.G12V) ( ENST00000693229.1, ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1 ) - Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- Case report of a 59-year-old white female patient (60 pack-years) with a CUP-syndrome. Molecular profiling identified both MET amplification (16 copies) and a KRAS G12V mutation. The patient was treated with crizotinib and experienced a complete normalization of tumor metabolic activity for more than 19 months. Other identified aberrations include CCND1 amplification (8 copies), MYC amplification (9 copies) as well as KRAS G12V, TP53 R273L and CARD11 N184S.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1715
- Gene URL
- https://civic.genome.wustl.edu/links/genes/30
- Variant URL
- https://civic.genome.wustl.edu/links/variants/425
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Does Not Support
- Drug
- Crizotinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 25232318
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crizotinib | Resitance or Non-Reponse | false |