Annotation Detail
Information
- Associated Genes
- BIRC5
- Associated Variants
-
BIRC5 OVEREXPRESSION
(
ENST00000301633.8 )
BIRC5 OVEREXPRESSION ( ENST00000301633.8 ) - Associated Disease
- Her2-receptor positive breast cancer
- Source Database
- CIViC Evidence
- Description
- 13 HER2 breast cancer patients were treated with trastuzumab and then trastuzumab + docetaxel prior to surgery. Pretreatment biopsies and post-treatment surgical samples were obtained, and microarray performed. 5 of 13 patients responded to treatment, and pretreatment biopsies from non-responders showed significantly higher survivin (BIRC5) mRNA (p=0.026) levels than responders. In HER2 positive, trastuzumab-sensitive BT474 cells, overexpression of survivin blunted sensitivity to trastuzumab. In HER2 positive trastuzumab-resistant breast cancer cell lines, knockdown of survivin with RNAi or with YM155 induced growth inhibition and apoptosis.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1449
- Gene URL
- https://civic.genome.wustl.edu/links/genes/355
- Variant URL
- https://civic.genome.wustl.edu/links/variants/578
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Her2-receptor Positive Breast Cancer
- Evidence Direction
- Supports
- Drug
- Trastuzumab
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 23204226
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Trastuzumab | Resitance or Non-Reponse | true |