rs104886003, PIK3CA

N. diseases: 71
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.710 GeneticVariation BEFREE We also found that an activating (E545K) Pik3ca mutation, unlike Pten inactivation or Pik3ca H1047R mutation, cannot cooperate with Arid1a loss to promote ovarian cancer development in the mouse. 26279473 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
0.710 GeneticVariation BEFREE Our cervical tumor mutational landscape shows that most mutations are found in PIK3CA (E545K, E542K) and KRAS (G12D, G13D) and others in FBXW7 (R465C, R505G, R479Q). 26155992 2015
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR PIK3CA mutation H1047R is associated with response to PI3K/AKT/mTOR signaling pathway inhibitors in early-phase clinical trials. 23066039 2013
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 CausalMutation CLINVAR PIK3CA and AKT1 mutations have distinct effects on sensitivity to targeted pathway inhibitors in an isogenic luminal breast cancer model system. 23888070 2013
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.710 CausalMutation CLINVAR PI3K/AKT/mTOR inhibitors in patients with breast and gynecologic malignancies harboring PIK3CA mutations. 22271473 2012
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 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
0.710 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
0.710 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
0.710 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
0.710 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
0.710 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
0.710 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
0.710 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830 2008
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
0.710 GeneticVariation BEFREE PI3K inhibitor (LY294002) inhibited the growth of an esophageal cancer cell line with a PIK3CA mutation (E545K) in vitro. 18262558 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.710 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
0.710 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
0.710 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
0.710 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
0.710 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
0.710 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005