Gene: PIK3CA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913273
rs121913273
PIK3CA
0.730 GeneticVariation UNIPROT

dbSNP: rs1057519927
rs1057519927
PIK3CA
0.700 GeneticVariation UNIPROT

dbSNP: rs121913281
rs121913281
PIK3CA
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913286
rs121913286
PIK3CA
0.700 GeneticVariation UNIPROT

dbSNP: rs1560137609
rs1560137609
PIK3CA
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs121913279
rs121913279
PIK3CA
0.800 GeneticVariation UNIPROT PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma. 16353168

2006
dbSNP: rs104886003
rs104886003
PIK3CA
0.760 GeneticVariation UNIPROT PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma. 16353168

2006
dbSNP: rs397517201
rs397517201
PIK3CA
0.700 GeneticVariation UNIPROT PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma. 16353168

2006
dbSNP: rs121913279
rs121913279
PIK3CA
0.800 GeneticVariation BEFREE The incidence of point mutations in PIK3CA, the A3140G substitution in particular, in Singapore breast cancers are among the most frequent reported to date for any gene in breast cancer. 16582596

2006
dbSNP: rs121913279
rs121913279
PIK3CA
0.800 GeneticVariation BEFREE In trastuzumab-resistant BT474 H1047R breast cancer xenografts, NVP-BEZ235 inhibited PI3K signaling and had potent antitumor activity. 18829560

2008
dbSNP: rs104886003
rs104886003
PIK3CA
0.760 GeneticVariation BEFREE We further validated the approach in breast cancer cells with mutational activation of PIK3CA, where tandem mass spectrometry detected and quantitatively measured the abundance of a helical domain mutant (E545K) of PIK3CA connected to PI3K activation. 21775521

2011
dbSNP: rs121913279
rs121913279
PIK3CA
0.800 GeneticVariation BEFREE To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a mouse model of breast cancer conditionally expressing human PIK3CA(H1047R). 21822287

2011
dbSNP: rs121913279
rs121913279
PIK3CA
0.800 GeneticVariation BEFREE Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1047R exon 20 mutant of PIK3CA in luminal mammary epithelial cells induces tumorigenesis, implying that PIK3CA mutation is an early event in breast cancer. 22315990

2012
dbSNP: rs121913279
rs121913279
PIK3CA
0.800 GeneticVariation BEFREE In this study, we report the development of a knock-in mouse model for breast cancer where the endogenous Pik3ca allele was modified to allow tissue-specific conditional expression of a frequently found Pik3ca(H1047R) (Pik3ca(e20H1047R)) mutant allele. 22370636

2013
dbSNP: rs17849079
rs17849079
PIK3CA
0.010 GeneticVariation BEFREE Furthermore, we have shown a high prevalence (8.2-fold) of a silent variant (SNP, rs17849079) in the Arab breast cancer population compared with disease-free individuals. 23982433

2013
dbSNP: rs17849071
rs17849071
PIK3CA
0.010 GeneticVariation BEFREE Among different BCa intrinsic subtypes, no significant differences were found on P53 expression status (P = 0.356) or rs17849071 polymorphism (T>G) (P = 0.813). 24908061

2014
dbSNP: rs121913279
rs121913279
PIK3CA
0.800 GeneticVariation BEFREE This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. 25027743

2014
dbSNP: rs104886003
rs104886003
PIK3CA
0.760 GeneticVariation BEFREE This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. 25027743

2014
dbSNP: rs121913273
rs121913273
PIK3CA
0.730 GeneticVariation BEFREE This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively. 25027743

2014
dbSNP: rs121913279
rs121913279
PIK3CA
0.800 GeneticVariation BEFREE Gene set enrichment analysis reveals a highly significant concordance of the genes differentially expressed in MCF-10A-H1047R cells and the established protein and RNA signatures of basal breast cancer. 25583473

2015
dbSNP: rs121913273
rs121913273
PIK3CA
0.730 GeneticVariation BEFREE We attempted to develop a highly sensitive and specific method for the detection of circulating tumor DNA (ctDNA) using a digital PCR (dPCR) assay for PIK3CA mutations (i.e., H1047R, E545K, and E542K) in primary breast cancer patients. 25736040

2015
dbSNP: rs121913279
rs121913279
PIK3CA
0.800 GeneticVariation BEFREE Using in situ genetic lineage tracing and limiting dilution transplantation, we have unravelled the potential of PIK3CA(H1047R), one of the most frequent mutations occurring in human breast cancer, to induce multipotency during tumorigenesis in the mammary gland. 26266975

2015
dbSNP: rs121913279
rs121913279
PIK3CA
0.800 GeneticVariation BEFREE The results suggest PIK3CA H1047R mutant cells have a selective advantage in breast, contribute to breast cancer susceptibility, and drive tumor progression during breast carcinogenesis, even when present as only a subpopulation of tumor cells. 27108388

2016
dbSNP: rs121913279
rs121913279
PIK3CA
0.800 GeneticVariation BEFREE Using a variety of physiologically relevant model systems with defined natural or knock-in PIK3CA mutations and/or PI3K hyperactivation, we show that PIK3CA-E545K mutations (found in ∼20% of PIK3CA-mutant breast cancers), but not PIK3CA-H1047R mutations (found in 55% of PIK3CA-mutant breast cancers), preferentially activate AKT1. 27197157

2016
dbSNP: rs104886003
rs104886003
PIK3CA
0.760 GeneticVariation BEFREE Using a variety of physiologically relevant model systems with defined natural or knock-in PIK3CA mutations and/or PI3K hyperactivation, we show that PIK3CA-E545K mutations (found in ∼20% of PIK3CA-mutant breast cancers), but not PIK3CA-H1047R mutations (found in 55% of PIK3CA-mutant breast cancers), preferentially activate AKT1. 27197157

2016