Gene: PIK3CA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs121913273
rs121913273
PIK3CA
0.730 GeneticVariation BEFREE ORR and 6 m PFS were both 5.6% (1/18), with one patient with HR+ breast cancer and a PIK3CA E542K mutation experiencing a partial response (on treatment for 36 weeks). 31277699

2019
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: 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: rs121913273
rs121913273
PIK3CA
0.730 GeneticVariation UNIPROT

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: 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: rs587777790
rs587777790
PIK3CA
0.010 GeneticVariation BEFREE Structural prediction, whole exome sequencing and molecular dynamics simulation confirms p.G118D somatic mutation of PIK3CA as functionally important in breast cancer patients. 31174159

2019
dbSNP: rs6443624
rs6443624
PIK3CA
0.010 GeneticVariation BEFREE The SNPs of FGFR2 rs1219648 and PI3KCA rs6443624 may contribute to the identification of breast cancer patients at risk of more aggressive disease and may be potential prognostic factors in breast cancer in a Chinese population. 29872343

2018
dbSNP: rs2699887
rs2699887
PIK3CA ; LOC101928739
0.010 GeneticVariation BEFREE Epidemiologic studies suggested that mutations of the PI3K/PTEN/AKT pathway genes are associated with cancer risk, yet no data are available for PTEN rs701848, PIK3CA rs2699887, and AKT1 rs2494752 polymorphism and breast cancer(BC) risk. 28423632

2017
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: 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