Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN DELETION
(
ENST00000371953.8 )
PTEN DELETION ( ENST00000371953.8 ) - Associated Disease
- Her2-receptor positive breast cancer
- Source Database
- CIViC Evidence
- Description
- In a retrospective study of 111 HER2-positive metastatic breast cancer patients treated with trastuzumab-based therapy, PTEN loss (as measured by IHC) was associated with shorter survival as measured from initiation of trastuzumab (HR = 1.92, P = 0.017) and diagnosis of first metastasis (HR = 1.69, P = 0.047).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2035
- Gene URL
- https://civic.genome.wustl.edu/links/genes/41
- Variant URL
- https://civic.genome.wustl.edu/links/variants/214
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Her2-receptor Positive Breast Cancer
- Evidence Direction
- Supports
- Drug
- Trastuzumab
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 21594665
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Trastuzumab | Resitance or Non-Reponse | true |