Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 AMPLIFICATION ( ENST00000269571.10 )
ERBB2 AMPLIFICATION ( ENST00000269571.10 )
Associated Disease
cholangiocarcinoma
Source Database
CIViC Evidence
Description
A patient with cholangiocarcinoma harboring with ERBB2 amplification detected by circulating tumor DNA testing was treated with trastuzumab and pertuzumab. This treatment showed a tumor response and continued over 12 months.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/7638
Gene URL
https://civic.genome.wustl.edu/links/genes/20
Variant URL
https://civic.genome.wustl.edu/links/variants/306
Rating
3
Evidence Type
Predictive
Disease
Cholangiocarcinoma
Evidence Direction
Supports
Drug
Trastuzumab,Pertuzumab
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
31453370
Drugs
Drug NameSensitivitySupported
PertuzumabSensitivitytrue
TrastuzumabSensitivitytrue