Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 AMPLIFICATION
(
ENST00000269571.10 )
ERBB2 AMPLIFICATION ( ENST00000269571.10 ) - Associated Disease
- lung adenocarcinoma
- Source Database
- CIViC Evidence
- Description
- 155 patients with lung adenocarcinomas underwent rebiopsy and genotyping (EGFR, AKT1, BRAF, ERBB2, KRAS, MEK1, NRAS, PIK3CA and FISH for MET and HER2) after the development of acquired resistance to EGFR inhibitors (gefitinib or erlotinib). 2 of 24 patients tested were found to have HER2 amplification (but no baseline samples available for analysis). One patient of which had a metastasis sample which was reported to have only HER2 amplification whereas another autopsy specimen from the same patient was HER2 negative but EGFR T790M positive.
- Variant Origin
- N/A
- Variant Origin
- N/A
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1393
- Gene URL
- https://civic.genome.wustl.edu/links/genes/20
- Variant URL
- https://civic.genome.wustl.edu/links/variants/306
- Rating
- 1
- Evidence Type
- Predictive
- Disease
- Lung Adenocarcinoma
- Evidence Direction
- Supports
- Drug
- Gefitinib,Erlotinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 23470965