Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN EXPRESSION
PTEN EXPRESSION - 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
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1624
- Gene URL
- https://civic.genome.wustl.edu/links/genes/41
- Variant URL
- https://civic.genome.wustl.edu/links/variants/313
- Rating
- 1
- Evidence Type
- Predictive
- Disease
- Her2-receptor Positive Breast Cancer
- Evidence Direction
- Supports
- Drug
- Fulvestrant,Everolimus
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 27445490
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Everolimus | Resitance or Non-Reponse | true |
| Fulvestrant | Resitance or Non-Reponse | true |