Annotation Detail
Information
- Associated Genes
- MAP2K1
- Associated Variants
-
MAP2K1 p.Gln56Pro (p.Q56P)
(
ENST00000307102.10,
ENST00000689951.1,
ENST00000691937.1,
ENST00000686347.1,
ENST00000691576.1,
ENST00000685172.1,
ENST00000685763.1,
ENST00000692683.1,
ENST00000693150.1 )
MAP2K1 p.Gln56Pro (p.Q56P) ( ENST00000307102.10, ENST00000685172.1, ENST00000685763.1, ENST00000686347.1, ENST00000689951.1, ENST00000691576.1, ENST00000691937.1, ENST00000692683.1, ENST00000693150.1 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- A375 cells expressing MAP2K1 Q56P mutation conferred an approximately 100-fold increased resistance to selumetinib (AZD6244) induced growth inhibition when compared to untransduced cells, cells expressing wild-type MAP2K1, or cells expressing a constitutively active form. This mutation also attenuated pERK inhibition by selumetinib in these cells.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/13
- Gene URL
- https://civic.genome.wustl.edu/links/genes/31
- Variant URL
- https://civic.genome.wustl.edu/links/variants/83
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Selumetinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 19915144
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Selumetinib | Resitance or Non-Reponse | true |