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). PIK3CA E545K was the only variant noted in the primary tumor (found in the sigma-rectum junction) of one patient who experienced partial response 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. See Patient 55 from Supplemental Table 1 for more information on this patient.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2037
Gene URL
https://civic.genome.wustl.edu/links/genes/37
Variant URL
https://civic.genome.wustl.edu/links/variants/104
Rating
2
Evidence Type
Predictive
Disease
Colorectal Cancer
Evidence Direction
Does Not Support
Drug
Panitumumab,Cetuximab
Evidence Level
C
Clinical Significance
Resistance
Pubmed
19223544
Drugs
Drug NameSensitivitySupported
CetuximabResitance or Non-Reponsefalse
PanitumumabResitance or Non-Reponsefalse