Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
0.030 GeneticVariation BEFREE We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival. 20021639

2009

dbSNP: rs1042522
rs1042522
0.030 GeneticVariation BEFREE Taken together, we showed the preferential loss of the rs1042522 C allele, which is protective against BC progression, in breast tumors. 21810023

2011

dbSNP: rs1042522
rs1042522
0.030 GeneticVariation BEFREE Our aim was to evaluate association of R72P with breast cancer risk as well as histopathologic features of the breast tumors and survival. 16033823

2005

dbSNP: rs104886003
rs104886003
A 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

dbSNP: rs104886003
rs104886003
A 0.710 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830

2008

dbSNP: rs104886003
rs104886003
C 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

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

2016

dbSNP: rs104886003
rs104886003
C 0.710 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005

dbSNP: rs104886003
rs104886003
A 0.710 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2004

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

2016

dbSNP: rs104886003
rs104886003
C 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

dbSNP: rs104886003
rs104886003
C 0.710 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582

2012

dbSNP: rs104886003
rs104886003
A 0.710 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008

dbSNP: rs104886003
rs104886003
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
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
A 0.710 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582

2012

dbSNP: rs104886003
rs104886003
C 0.710 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010

dbSNP: rs104886003
rs104886003
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

dbSNP: rs104886003
rs104886003
C 0.710 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830

2008

dbSNP: rs104886003
rs104886003
A 0.710 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010

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

2014

dbSNP: rs104886003
rs104886003
C 0.710 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2004

dbSNP: rs104886003
rs104886003
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

dbSNP: rs104886003
rs104886003
A 0.710 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005

dbSNP: rs104886003
rs104886003
C 0.710 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008