Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582 2012
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582 2012
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 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: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 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: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 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: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582 2012
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058 2010
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058 2010
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058 2010
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830 2008
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830 2008
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830 2008
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 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: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 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: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 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: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005
dbSNP: rs397517201
rs397517201
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419 2004