Source: CLINVAR

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
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
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
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
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
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
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
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
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
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
0.740 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2005

dbSNP: rs121434592
rs121434592
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.720 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121434592
rs121434592
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2015

dbSNP: rs121434592
rs121434592
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.720 CausalMutation CLINVAR The landscape of cancer genes and mutational processes in breast cancer. 22722201

2012

dbSNP: rs121434592
rs121434592
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.720 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010

dbSNP: rs121434592
rs121434592
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.720 CausalMutation CLINVAR Phosphatidylinositol-3-kinase and AKT1 mutations occur early in breast carcinoma. 19418217

2010

dbSNP: rs121434592
rs121434592
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.720 CausalMutation CLINVAR Mutational profile of advanced primary and metastatic radioactive iodine-refractory thyroid cancers reveals distinct pathogenetic roles for BRAF, PIK3CA, and AKT1. 19487299

2009

dbSNP: rs121434592
rs121434592
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.720 CausalMutation CLINVAR A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. 17611497

2007

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

2015

dbSNP: rs104886003
rs104886003
CUI: C1458155
Disease: Mammary Neoplasms
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

2014

dbSNP: rs104886003
rs104886003
CUI: C1458155
Disease: Mammary Neoplasms
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