rs121913273, PIK3CA

N. diseases: 44
Disease: Neoplasms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.030 GeneticVariation BEFREE A specimen from the tumor site that subsequently manifested rapid clinical progression contained a <i>PIK3CA</i> mutation E542K, and yielded propagating xenografts that retained the OD/AOD-defining genomic alterations (<i>IDH1</i><sup>R132H</sup> and 1p/19q codeletion) and <i>PIK3CA</i><sup>E542K</sup>, and displayed characteristic sensitivity to alkylating chemotherapeutic agents. 30975663 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.030 GeneticVariation BEFREE PIK3CA mutations were predominantly occurred in p.E545K and p.E542K on exon 9 in moderately to poorly differentiated tumors. 30266251 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.030 GeneticVariation BEFREE PIK3CA mutations were detected in 25% of tumors and 26% of cell lines with a significant excess of helical domain mutations (E542K and E545K). 19789314 2009