Annotation Detail

Information
Associated Genes
PTEN
Associated Variants
PTEN DELETION ( ENST00000371953.8 )
PTEN DELETION ( ENST00000371953.8 )
Associated Disease
breast cancer
Source Database
CIViC Evidence
Description
PTEN loss is associated with loss of sensitivity to the HER2-antibody trastuzumab in breast cancer in smaller trials, a phase III trial (NCCTG N9831) did not show an effect of PTEN on disease-free survival.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/645
Gene URL
https://civic.genome.wustl.edu/links/genes/41
Variant URL
https://civic.genome.wustl.edu/links/variants/214
Rating
1
Evidence Type
Predictive
Disease
Breast Cancer
Evidence Direction
Supports
Drug
Trastuzumab
Evidence Level
B
Clinical Significance
Resistance
Pubmed
24387334
Drugs
Drug NameSensitivitySupported
TrastuzumabResitance or Non-Reponsetrue