Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Leu637Ser (p.L637S)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Leu637Ser (p.L637S) ( ENST00000646891.2, ENST00000644969.2, ENST00000288602.11, ENST00000496384.7 ) - Associated Disease
- skin melanoma
- Source Database
- CIViC Evidence
- Description
- Case report of a 69 year old patient with metastatic melanoma treated with MEK inhibitor TAK-733 in a clinical trial. A partial radiographic response with a decrease of 31% in the sum of maximum diameters of target metastatic lesions in the liver and spleen was noted after 2 cycles of therapy and remained progression free at more than 24 weeks. Follow-up sequencing analysis of DNA from the patient's tumor revealed a somatic BRAF L597S mutation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1460
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/582
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Skin Melanoma
- Evidence Direction
- Supports
- Drug
- MEK Inhibitor TAK-733
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 22798288
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| MEK Inhibitor TAK-733 | Sensitivity | true |