rs121913273, PIK3CA

N. diseases: 21
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR The selective class I PI3K inhibitor CH5132799 targets human cancers harboring oncogenic PIK3CA mutations. 21558396 2011
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419 2004
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419 2004
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419 2004
Macrodactylia of fingers
CUI: C0158763
Disease: Macrodactylia of fingers
0.700 CausalMutation CLINVAR Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly. 26851524 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Regorafenib in metastatic colorectal cancer. 24559322 2014
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Prognostic role of PIK3CA mutation in colorectal cancer: cohort study and literature review. 22357840 2012
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058 2010
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058 2010
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058 2010
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR PIK3CA mutations predict local recurrences in rectal cancer patients. 19903786 2009
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR PIK3CA mutations in colorectal cancer are associated with clinical resistance to EGFR-targeted monoclonal antibodies. 19223544 2009
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
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
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer. 19366826 2009
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR PIK3CA mutation status in Japanese lung cancer patients. 16930767 2006
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR PIK3CA mutation H1047R is associated with response to PI3K/AKT/mTOR signaling pathway inhibitors in early-phase clinical trials. 23066039 2013
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 CausalMutation CLINVAR PI3K/AKT/mTOR inhibitors in patients with breast and gynecologic malignancies harboring PIK3CA mutations. 22271473 2012
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582 2012
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582 2012