rs121913279, PIK3CA

N. diseases: 68
Source: ALL
Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 GeneticVariation BEFREE All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutations in both MET (p.T992I) and PIK3CA (p.H1047R). 24318467 2014
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 GeneticVariation BEFREE We found that activation of the latent Pik3ca(H1047R) allele resulted in breast tumors with multiple histological types. 22370636 2013
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 CausalMutation CLINVAR Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors. 22162589 2012
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582 2012
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 GeneticVariation BEFREE Our results suggest that the PIK3CA H1047R oncogene targets a multipotent progenitor cell and, furthermore, show that this model recapitulates features of human breast tumors with PIK3CA H1047R. 21482677 2011
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 CausalMutation CLINVAR The selective class I PI3K inhibitor CH5132799 targets human cancers harboring oncogenic PIK3CA mutations. 21558396 2011
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058 2010
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 GeneticVariation BEFREE In addition, the combined treatment of DSF and LY294002 significantly inhibited the growth of the breast tumor xenograft in nude mice induced by MDA-MB-231 cells expressing mutant PIK3CA-H1047R and PIK3CA-E545K, whereas neither DSF nor LY294002 alone could significantly retard tumor growth. 20424113 2010
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419 2005
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 CausalMutation CLINVAR PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma. 15805248 2005
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.740 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005