Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.His1047Arg (p.H1047R)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.His1047Arg (p.H1047R) ( 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; PIK3CA H1047R was the only variant noted in the primary tumors of four patients (Patient Ids: 7, 42, 52, 64; Table S1) and the metastatic tumor of one patient (11; Table S1), who experienced disease progression following treatment. It was also noted in the primary tumors of 3 patients (25, 48, 88; Table S1) who experienced stable disease following treatment.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, one patient (38, Table S1) had PIK3CA H1047R 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/388
- Gene URL
- https://civic.genome.wustl.edu/links/genes/37
- Variant URL
- https://civic.genome.wustl.edu/links/variants/107
- Rating
- 2
- 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 |