Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN DELETION
(
ENST00000371953.8 )
PTEN DELETION ( ENST00000371953.8 ) - Associated Disease
- colorectal cancer
- Source Database
- CIViC Evidence
- Description
- In this study, 81 metastatic colorectal cancer patients were treated with anti-epidermal growth factor receptor monoclonal antibodies (cetuximab or panitumumab). Multivariate analysis demonstrated a significant association between PTEN protein expression loss and lack of response to panitumumab or cetuximab (P = 0.0012). Patients with PTEN non-expressing tumors (32/80) had shorter overall survival, compared to those with PTEN expressing tumors (P = 0.0048), though they had a nonsignificant difference in progression free survival (p = .0681). PIK3CA, PTEN, and KRAS were evaluated for mutations; PTEN loss was the only variant noted in 17 of the patients who experienced either stable disease or disease progression, while the other patients experienced PTEN loss in combination with a KRAS or PIK3CA mutation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6315
- 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
- Colorectal Cancer
- Evidence Direction
- Supports
- Drug
- Cetuximab,Panitumumab
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 19223544
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Cetuximab | Resitance or Non-Reponse | true |
| Panitumumab | Resitance or Non-Reponse | true |