rs121913274, PIK3CA

N. diseases: 33
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
0.710 GeneticVariation BEFREE Nine of 33 (27%) EN harbored PIK3CA mutations; all cases showed the E545G substitution, which is uncommon in cancers. 17673550 2007
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 GeneticVariation BEFREE The incidence of PIK3CA mutation is low in SCLC patients, and the pseudogene-positive alteration of A1634C is prone to occur in exon 9 of PIK3CA mutations in human cancers. 27629725 2016
Follicular thyroid carcinoma
CUI: C0206682
Disease: Follicular thyroid carcinoma
0.010 GeneticVariation BEFREE In addition, an activating mutation (E545A) in the PKI3CA oncogene was found in the FTC. 22136270 2011
Pain
CUI: C0030193
Disease: Pain
0.010 GeneticVariation BEFREE Next-generation sequencing analysis of 592 genes showed a missense mutation, p.E545A in PIK3CA, thus the patient was started on the mTOR inhibitor everolimus, in combination with exemestane, which controlled her pain; however, the disease progressed aggressively. 29790419 2018
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 CausalMutation CLINVAR
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
0.710 CausalMutation CLINVAR
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
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
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
melanoma
CUI: C0025202
Disease: melanoma
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 Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. 20619739 2010
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005
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
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
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
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016