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 non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- In preclinical studies of transgenic mice and xenografts, continuous expression of mutant ERBB2 (M774insAYVM or the equivalent A775insYVMA) was found to be essential for tumor maintenance. Furthermore, preclinical in vivo studies assessing erlotinib, trastuzumab, afatinib (aka BIBW2992), and/or sirolimus (aka rapamycin) revealed that the combination of afatinib and sirolimus was most effective in shrinking tumors harboring this insertion.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/960
- 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 Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Sirolimus,Afatinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 19122144