Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886003
rs104886003
PIK3CA
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
PIK3CA
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
PIK3CA
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
PIK3CA
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
PIK3CA
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
PIK3CA
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
PIK3CA
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
PIK3CA
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
PIK3CA
C 0.710 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008
dbSNP: rs104886003
rs104886003
PIK3CA
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
PIK3CA
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
PIK3CA
C 0.710 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005
dbSNP: rs104886003
rs104886003
PIK3CA
A 0.710 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005
dbSNP: rs104886003
rs104886003
PIK3CA
A 0.710 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2004
dbSNP: rs104886003
rs104886003
PIK3CA
C 0.710 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2004
dbSNP: rs121912664
rs121912664
TP53
T 0.710 CausalMutation CLINVAR

dbSNP: rs555607708
rs555607708
CHEK2
A 0.700 CausalMutation CLINVAR Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma. 28514723

2017
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519045
rs1057519045
FGFR2
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
A 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016