Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA MUTATION
PIK3CA MUTATION
Associated Disease
Ewings sarcoma
Source Database
DisGeNET
Description
Novel somatic mutations were identified in four out of 18 patients with advanced ES and two of 10 patients with advanced DSRCT (six out of 28 (21.4%));KRAS (n = 1), PTPRD (n = 1), GRB10 (n = 2), MET (n = 2) and PIK3CA (n = 1).
Pubmed
25119929
Section of the abstract supporting the evidence
PRINCIPAL FINDINGS
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
5
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Drugs