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 51-year old female never smoker with stage IV lung adenocarcinoma carrying a HER2 insertion in exon 20 (p.A775_G776insYVMA) by sequencing archived material, HER2 overexpression by IHC (2+) and HER2 amplification by in situ hybridization was treated with T-DM1 (trastuzumab emtansine). Patient received two cycles off-label at 3.6mg/kg and was found to have morphologic response of lung and bone lesions by PET and CT. TDM-1 therapy was ongoing as of publication April 2015.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1125
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
Trastuzumab Emtansine
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
25789838
Drugs
Drug NameSensitivitySupported
Trastuzumab EmtansineSensitivitytrue