Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 p.Gly776Leu (p.G776L) ( ENST00000541774.5, ENST00000406381.6, ENST00000445658.6, ENST00000584450.5, ENST00000269571.10, ENST00000584601.5 )
ERBB2 p.Gly776Leu (p.G776L) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
Associated Disease
lung adenocarcinoma
Source Database
CIViC Evidence
Description
A Phase II study for use of Afatinib in non- or light smokers with lung adenocarcinoma. Three patients with metastatic lung adenocarcinomas bearing mutations in the kinase domain of HER2 gene were identified (Y772_A775dup, G776L, and G778_P780dup). Objective response was observed in all three of these patients. The patient with G776L (Case 2 in the paper) achieved a partial response after two months of afatinib (50 mg/day). The time to progression of this single agent was four months. The patient was also noted to have a EGFR kinase domain (exon 21: p.Ala859Thr) mutation.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1889
Gene URL
https://civic.genome.wustl.edu/links/genes/20
Variant URL
https://civic.genome.wustl.edu/links/variants/816
Rating
3
Evidence Type
Predictive
Disease
Lung Adenocarcinoma
Evidence Direction
Supports
Drug
Afatinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
22325357
Drugs
Drug NameSensitivitySupported
AfatinibSensitivitytrue