Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA MUTATION
PIK3CA MUTATION
Associated Disease
Her2-receptor positive breast cancer
Source Database
CIViC Evidence
Description
The HER2 overexpressing breast cancer cell line BT-474 transduced with mutant PIK3CA H1047R demonstrated essentially normal proliferation under trastuzumab, while control cells showed negligible proliferation with trastuzumab. Sequencing of 55 HER2 breast cancer samples revealed 25% PIK3CA mutation rate and Kaplan Meier curves showed decreased time to progression for mutant PIK3CA at borderline statistical significance (p=0.052). This was potentially explained by presence of PTEN loss in wild-type PIK3CA sample and combining PTEN loss with PIK3CA mutation resulted in significant differences in time to progression (p=0.007).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1384
Gene URL
https://civic.genome.wustl.edu/links/genes/37
Variant URL
https://civic.genome.wustl.edu/links/variants/311
Rating
2
Evidence Type
Predictive
Disease
Her2-receptor Positive Breast Cancer
Evidence Direction
Supports
Drug
Trastuzumab
Evidence Level
B
Clinical Significance
Resistance
Pubmed
17936563
Drugs
Drug NameSensitivitySupported
TrastuzumabResitance or Non-Reponsetrue