rs121913273, PIK3CA

N. diseases: 44
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CLAPO Syndrome
CUI: C2751313
Disease: CLAPO Syndrome
0.800 CausalMutation CLINVAR
CLAPO Syndrome
CUI: C2751313
Disease: CLAPO Syndrome
0.800 GeneticVariation UNIPROT
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.730 GeneticVariation UNIPROT
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.710 GeneticVariation BEFREE PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%). 18181165 2008
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.710 GeneticVariation BEFREE By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R. 17673550 2007
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.710 GeneticVariation UNIPROT
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
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
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
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
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
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Papillary renal cell carcinoma, sporadic
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Squamous cell carcinoma of the head and neck
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
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