Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Val640Lys (p.V640K) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Lys (p.V640K) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
melanoma
Source Database
CIViC Evidence
Description
A 53 year old male presented with a scalp lesion which was incompletely excised. Metastases were seen in lymph node biopsy and subsequently in CT. BRAF inhibitor vemurafenib was then administered at 960 mg twice daily and later at 720 mg twice daily and reduction in metastases was observed. After 2 years complete radiological response was seen, while treatment was discontinued due to cardiomyopathy. 12 months after stopping vemurafenib patient did not show evidence of metastatic melanoma.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1400
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/563
Rating
3
Evidence Type
Predictive
Disease
Melanoma
Evidence Direction
Supports
Drug
Vemurafenib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
26989536
Drugs
Drug NameSensitivitySupported
VemurafenibSensitivitytrue