Annotation Detail

Information
Associated Genes
ERBB4
Associated Variants
ERBB4 MUTATION
ERBB4 MUTATION
Associated Disease
melanoma
Source Database
CIViC Evidence
Description
ERBB4 was the most commonly mutated protein tyrosine kinase in this study in melanoma (19% in 79 patients). Seven of the identified mutations in ERBB4 (E317K, E452K, E542K, R544W, E563K, E836K and E872K) were transforming and activating in-vitro. ERBB4 inhibition with shRNA or lapatinib led to reduced cell growth.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/770
Gene URL
https://civic.genome.wustl.edu/links/genes/1734
Variant URL
https://civic.genome.wustl.edu/links/variants/310
Rating
4
Evidence Type
Predictive
Disease
Melanoma
Evidence Direction
Supports
Drug
Lapatinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
19718025
Drugs
Drug NameSensitivitySupported
LapatinibSensitivitytrue