Annotation Detail
Information
- Associated Genes
- MAP2K1
- Associated Variants
-
MAP2K1 p.Cys121Ser (p.C121S)
(
ENST00000307102.10,
ENST00000689951.1,
ENST00000691937.1,
ENST00000691576.1,
ENST00000685172.1,
ENST00000685763.1,
ENST00000693150.1,
ENST00000686347.1,
ENST00000692683.1 )
MAP2K1 p.Cys121Ser (p.C121S) ( 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
- A patient with BRAF-mutant melanoma relapsed after treatment with PLX4032 (vemurafenib). The MAP2K1 C121S mutation was identified as a relapse-specific variant and was undetectable in the pre-treatment tumor. In vitro experiments showed that the C121S mutation increased kinase activity and conferred resistance to PLX4032.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1602
- Gene URL
- https://civic.genome.wustl.edu/links/genes/31
- Variant URL
- https://civic.genome.wustl.edu/links/variants/627
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Vemurafenib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 21383288
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vemurafenib | Resitance or Non-Reponse | true |