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 large-scale RNAi genetic sereen in HER2 overexpressing breast cancer cell line BT-474 was performed to discover genes whose loss induced trastuzumab resistance. The most prominently enriched gene in trastuzumab resistant populations was PTEN. Subsequent knockdown of PTEN in BT-474 cells increased cell survival when treated with trastuzumab, and growth curves showed partial restoration of proliferation in PTEN knockdown BT-474 cells treated with trastuzumab.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1383
- 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
- D
- Clinical Significance
- Resistance
- Pubmed
- 17936563
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Trastuzumab | Resitance or Non-Reponse | true |