Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
0.740 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913279
rs121913279
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

dbSNP: rs121913279
rs121913279
0.740 GeneticVariation BEFREE We found that activation of the latent Pik3ca(H1047R) allele resulted in breast tumors with multiple histological types. 22370636

2013

dbSNP: rs121913279
rs121913279
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

dbSNP: rs121913279
rs121913279
0.740 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582

2012

dbSNP: rs121913279
rs121913279
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

dbSNP: rs121913279
rs121913279
0.740 CausalMutation CLINVAR The selective class I PI3K inhibitor CH5132799 targets human cancers harboring oncogenic PIK3CA mutations. 21558396

2011

dbSNP: rs121913279
rs121913279
0.740 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010

dbSNP: rs121913279
rs121913279
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

dbSNP: rs121913279
rs121913279
0.740 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008

dbSNP: rs121913279
rs121913279
0.740 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830

2008

dbSNP: rs121913279
rs121913279
0.740 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2005

dbSNP: rs121913279
rs121913279
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

dbSNP: rs121913279
rs121913279
0.740 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005

dbSNP: rs121434592
rs121434592
0.720 GeneticVariation BEFREE Moreover, AKT1(E17K) prevents HER2-driven mammary tumor formation, in part through negative feedback inhibition of RTK signaling. 27004402

2017

dbSNP: rs121434592
rs121434592
0.720 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121434592
rs121434592
0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2015

dbSNP: rs121434592
rs121434592
0.720 CausalMutation CLINVAR Functional analysis of non-hotspot AKT1 mutants found in human breast cancers identifies novel driver mutations: implications for personalized medicine. 23237847

2013

dbSNP: rs121434592
rs121434592
0.720 GeneticVariation BEFREE Available paired tissue samples from breast tumors known to harbor mutations underwent massARRAY genotyping (n = 70) to identify PIK3CA and AKT1(E17K) mutations. 21617917

2012

dbSNP: rs121434592
rs121434592
0.720 CausalMutation CLINVAR Mutation profiling identifies numerous rare drug targets and distinct mutation patterns in different clinical subtypes of breast cancers. 22538770

2012

dbSNP: rs121434592
rs121434592
0.720 CausalMutation CLINVAR The landscape of cancer genes and mutational processes in breast cancer. 22722201

2012

dbSNP: rs121434592
rs121434592
0.720 CausalMutation CLINVAR Mutational characterization of individual breast tumors: TP53 and PI3K pathway genes are frequently and distinctively mutated in different subtypes. 21512767

2012

dbSNP: rs121434592
rs121434592
0.720 CausalMutation CLINVAR Deactivation of Akt by a small molecule inhibitor targeting pleckstrin homology domain and facilitating Akt ubiquitination. 21464312

2011

dbSNP: rs121434592
rs121434592
0.720 CausalMutation CLINVAR Phosphatidylinositol-3-kinase and AKT1 mutations occur early in breast carcinoma. 19418217

2010

dbSNP: rs121434592
rs121434592
0.720 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010