Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Glu545Lys (p.E545K)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Glu545Lys (p.E545K) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- colorectal cancer
- Source Database
- CIViC Evidence
- Description
- In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epidermal growth factor receptor monoclonal antibodies (cetuximab or panitumumab). KRAS PIK3CA and PTEN were tested for mutation, and 1 patient (patient 95, see supplemental table 1) had PIK3CA E545K in the primary tumor without co-occurring mutations in the other tested genes. This response was consistent with observations made of the larger cohort, where patients with tumors harboring any PIK3CA mutation had significantly shorter progression free survival and decreased incidence of objective response than patients with wtPIK3CA tumors. However, there was one patient (Patient 55, Table S1) who had E545K as the only noted variant, but experienced partial response.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/387
- Gene URL
- https://civic.genome.wustl.edu/links/genes/37
- Variant URL
- https://civic.genome.wustl.edu/links/variants/104
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Colorectal Cancer
- Evidence Direction
- Supports
- Drug
- Panitumumab,Cetuximab
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 19223544
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Cetuximab | Resitance or Non-Reponse | true |
| Panitumumab | Resitance or Non-Reponse | true |