Annotation Detail

Information
Associated Genes
PTCH1
Associated Variants
PTCH1 LOH ( ENST00000331920.11 )
PTCH1 LOH ( ENST00000331920.11 )
Associated Disease
Brain Medulloblastoma
Source Database
CIViC Evidence
Description
Loss-of-heterozygosity in SHH-driven medulloblastoma was associated with increased PFS under therapy with vismodegib (AKA HhAntag691, GDC0449, GDC-0449). 43 patients total were enrolled for this study.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/749
Gene URL
https://civic.genome.wustl.edu/links/genes/4645
Variant URL
https://civic.genome.wustl.edu/links/variants/302
Rating
2
Evidence Type
Predictive
Disease
Brain Medulloblastoma
Evidence Direction
Supports
Drug
Vismodegib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
26169613
Drugs
Drug NameSensitivitySupported
VismodegibSensitivitytrue