Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 p.Tyr772_Ala775dup (p.Y772_A775dup) ( ENST00000541774.5, ENST00000269571.10, ENST00000445658.6, ENST00000406381.6, ENST00000584450.5, ENST00000584601.5 )
ERBB2 p.Tyr772_Ala775dup (p.Y772_A775dup) ( 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 Y772_A775dup (Case 1 in the paper), maintained a metabolic complete response for 3 months, ultimately received a total of 9 months of Afatinib, and survived one year from study entry.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1888
Gene URL
https://civic.genome.wustl.edu/links/genes/20
Variant URL
https://civic.genome.wustl.edu/links/variants/414
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