Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 p.Gly778_Pro780dup (p.G778_P780dup) ( ENST00000584450.5, ENST00000406381.6, ENST00000584601.5, ENST00000541774.5, ENST00000269571.10, ENST00000445658.6 )
ERBB2 p.Gly778_Pro780dup (p.G778_P780dup) ( 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 G778_P780dup (Case 3 in the paper), had a rapid clinical and symptomatic response to Afatinib and stable disease which lasted for 3 months. Progressive disease at 4 months led to the addition of paclitaxel, resulting in partial response. Total Afatinib treatment was 15 months (11 in combination) at which time the patient developed a brain metastasis but no other progressive disease.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1890
Gene URL
https://civic.genome.wustl.edu/links/genes/20
Variant URL
https://civic.genome.wustl.edu/links/variants/817
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