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 tumor (located in rectum) of one patient who experienced partial response (patient 38; Supplemental Table 1), following treatment. In the larger cohort, patients with tumors harboring any PIK3CA mutation had significantly shorter progression free survival and decreased incidence of objective response than patients with wtPIK3CA tumors.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/258
- 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
- Does Not Support
- Drug
- Panitumumab,Cetuximab
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 19223544
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Cetuximab | Resitance or Non-Reponse | false |
| Panitumumab | Resitance or Non-Reponse | false |