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
- A subgroup of HER2-positive breast cancer patients that received first-line trastuzumab treatment were assessed for PTEN loss via IHC of FFPE samples. 46 samples showed PTEN loss while 41 did not, and PTEN loss alone was found to be significantly associated with resistance to trastuzumab (p=0.028) and shorter overall survival (p=0.008).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1385
- Gene URL
- https://civic.genome.wustl.edu/links/genes/41
- Variant URL
- https://civic.genome.wustl.edu/links/variants/214
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Her2-receptor Positive Breast Cancer
- Evidence Direction
- Supports
- Drug
- Trastuzumab
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 20813970
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Trastuzumab | Resitance or Non-Reponse | true |