Annotation Detail

Information
Associated Genes
FGFR1
Associated Variants
FGFR1 AMPLIFICATION ( ENST00000425967.8 )
FGFR1 AMPLIFICATION ( ENST00000425967.8 )
Associated Disease
breast cancer
Source Database
CIViC Evidence
Description
Activity of the FGFR-selective inhibitor AZD4547 in FGFR1-amplified breast cancer and FGFR2-amplified gastroesophageal cancer was analyzed in this study. 341 patients with advanced cancer were screened by FISH, identifying FGFR1 amplification in 18% of advanced HER2-negative breast cancers and FGFR2 amplification in 9% of advanced gastroesophageal cancer. 1 patient had a confirmed response among 8 patients treated with FGFR1-amplified breast cancer. In a preclinical model, FGFR1 amplification in breast cancer cell lines was less pronounced than FGFR2-amplifications in gastroesophageal cancers, which also had a higher response rate in the trial, indicating that high level amplification is associated with response and less common in FGFR1-amplified breast cancer.
Variant Origin
N/A
Variant Origin
N/A
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1991
Gene URL
https://civic.genome.wustl.edu/links/genes/1885
Variant URL
https://civic.genome.wustl.edu/links/variants/267
Rating
2
Evidence Type
Predictive
Disease
Breast Cancer
Evidence Direction
Supports
Drug
FGFR Inhibitor AZD4547
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
27179038
Drugs
Drug NameSensitivitySupported
FGFR Inhibitor AZD4547Sensitivitytrue