Annotation Detail

Information
Associated Genes
ERBB3
Associated Variants
ERBB3 p.Val104Met (p.V104M) ( ENST00000267101.8, ENST00000411731.6, ENST00000415288.6, ENST00000683018.1, ENST00000683059.1, ENST00000683164.1 )
ERBB3 p.Val104Met (p.V104M) ( ENST00000267101.8, ENST00000411731.6, ENST00000415288.6, ENST00000683018.1, ENST00000683059.1, ENST00000683164.1 )
Associated Disease
transitional cell carcinoma
Source Database
CIViC Evidence
Description
In this phase II trial, patients with metastatic platinum-refractory urothelial carcinoma (UC) received afatinib (40 mg/day). Among the 21 tumors, five of six patients (83.3%) with ERBB2 (HER2) and/or ERBB3 alterations achieved 3-month progression-free survival (PFS3) versus none of 15 patients without alterations (P < .001). Three of three patients with ERBB3 somatic mutations (G284R, V104M, and R103G) achieved PFS3.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1746
Gene URL
https://civic.genome.wustl.edu/links/genes/1733
Variant URL
https://civic.genome.wustl.edu/links/variants/701
Rating
3
Evidence Type
Predictive
Disease
Urothelial Carcinoma
Evidence Direction
Supports
Drug
Afatinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
27044931
Drugs
Drug NameSensitivitySupported
AfatinibSensitivitytrue