Annotation Detail

Information
Associated Genes
PTPRB
Associated Variants
PTPRB LOSS-OF-FUNCTION
PTPRB LOSS-OF-FUNCTION
Associated Disease
angiosarcoma
Source Database
CIViC Evidence
Description
The endothelial phosphatase PTPRB, a negative regulator of vascular growth factor tyrosine kinases, harbored truncating mutations in 10 of 39 angiosarcomas (26%) which correlated with MYC amplifications. In HUVEC cell line model, silencing of PTPRB induced features of angiogenesis which were abolished in the presence of sunitinib or vatalinib, inhibitors of VEGFR.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1895
Gene URL
https://civic.genome.wustl.edu/links/genes/4690
Variant URL
https://civic.genome.wustl.edu/links/variants/819
Rating
3
Evidence Type
Predictive
Disease
Angiosarcoma
Evidence Direction
Supports
Drug
Sunitinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
24633157
Drugs
Drug NameSensitivitySupported
SunitinibSensitivitytrue