Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
T 0.740 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913279
rs121913279
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 0.740 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913279
rs121913279
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
T 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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
T 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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 0.740 CausalMutation CLINVAR The selective class I PI3K inhibitor CH5132799 targets human cancers harboring oncogenic PIK3CA mutations. 21558396

2011

dbSNP: rs121913279
rs121913279
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
T 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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
T 0.740 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830

2008

dbSNP: rs121913279
rs121913279
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
T 0.740 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008

dbSNP: rs121913279
rs121913279
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 0.740 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008

dbSNP: rs121913279
rs121913279
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 0.740 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830

2008

dbSNP: rs121913279
rs121913279
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
T 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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 0.740 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005

dbSNP: rs121913279
rs121913279
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
T 0.740 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005

dbSNP: rs121913279
rs121913279
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
T 0.740 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2004

dbSNP: rs121913279
rs121913279
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 0.740 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2004

dbSNP: rs104886003
rs104886003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
C 0.710 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs104886003
rs104886003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.710 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs104886003
rs104886003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.710 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs104886003
rs104886003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 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

dbSNP: rs104886003
rs104886003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 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

dbSNP: rs104886003
rs104886003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 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