Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.His1047Arg (p.H1047R)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Her2-receptor positive breast cancer
- Source Database
- CIViC Evidence
- Description
- Case report of a 44-year-old patient with recurrent HER2-positive breast cancer. The primary tumor was HR positive; however, the metastatic tumor was HR negative. The patient was resistant to classical chemotherapeutic agents and anti-HER2 treatment. Thus, the combination of everolimus and fulvestrant was administered. The patient experienced stable disease and PFS of 10 months. Genetic testing of pleural effusion after disease progression revealed a PIK3CA H1047R gene mutation but was positive for PTEN expression (IHC).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1623
- Gene URL
- https://civic.genome.wustl.edu/links/genes/37
- Variant URL
- https://civic.genome.wustl.edu/links/variants/107
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Her2-receptor Positive Breast Cancer
- Evidence Direction
- Supports
- Drug
- Everolimus,Fulvestrant
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 27445490
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Everolimus | Sensitivity | true |
| Fulvestrant | Sensitivity | true |