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
- While some reports indicate PTEN loss is associated with resistance to trastuzumab, in a subgroup of HER2 breast cancer FFPE samples from patients receiving trastuzumab as later line therapy (second or greater line therapy), with 25 PTEN loss and and 25 normal samples, no association was seen between trastuzumab response and PTEN status (p=1.000) or overall survival and PTEN status (p=0.863).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1386
- 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
- Does Not Support
- Drug
- Trastuzumab
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 20813970
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Trastuzumab | Resitance or Non-Reponse | false |