Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF V600E AMPLIFICATION ( ENST00000288602.11 )
BRAF V600E AMPLIFICATION ( ENST00000288602.11 )
Associated Disease
colorectal cancer
Source Database
CIViC Evidence
Description
COLO201 and COLO206F cells harboring BRAF V600E mutations were cloned to be MEK inhibitor (AZD6244 [selumetinib]) resistant. The mechanism of this resistance was shown to be amplification of the BRAF V600E gene. BRAF V600E amplification was observed in 1/11 colorectal cancer patient samples evaluated, indicating this subclone (28% of cells) would be MEK inhibitor resistant.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/92
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/14
Rating
4
Evidence Type
Predictive
Disease
Colorectal Cancer
Evidence Direction
Supports
Drug
Selumetinib
Evidence Level
E
Clinical Significance
Resistance
Pubmed
21098728
Drugs
Drug NameSensitivitySupported
SelumetinibResitance or Non-Reponsetrue