Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Leu637Gln (p.L637Q) ( ENST00000496384.7, ENST00000288602.11, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Leu637Gln (p.L637Q) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
skin melanoma
Source Database
CIViC Evidence
Description
Case study report including one patient with L597Q mutation-positive metastatic melanoma (M1b disease) treated with the MEK inhibitor trametinib. The L597Q patient achieved a RECIST partial response and showed maximum tumor shrinkage of 33% with trametinib as the first-line treatment and had a partial response for 6.2 months.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4905
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/583
Rating
3
Evidence Type
Predictive
Disease
Skin Melanoma
Evidence Direction
Supports
Drug
Trametinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
24933606
Drugs
Drug NameSensitivitySupported
TrametinibSensitivitytrue