rs104886003, PIK3CA

N. diseases: 71
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Megalencephaly cutis marmorata telangiectatica congenita
0.800 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112 2016
Megalencephaly cutis marmorata telangiectatica congenita
0.800 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 GeneticVariation UNIPROT By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R. 17673550 2007
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Functional analysis of PIK3CA gene mutations in human colorectal cancer. 15930273 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT The prevalence of PIK3CA mutations in gastric and colon cancer. 15994075 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 CausalMutation CLINVAR
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.800 CausalMutation CLINVAR
Megalencephaly cutis marmorata telangiectatica congenita
0.800 CausalMutation CLINVAR
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.760 GeneticVariation BEFREE In this study, we directly compared PIK3CA hotspot mutations (E545K, H1047R) in EpCAM-positive CTCs and paired plasma-ctDNA in breast cancer (BrCa). 31254443 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.760 GeneticVariation BEFREE PIK3CA mutations are seemingly the most common driver mutations in breast cancer with H1047R and E545K being the most common of these, accounting together for around 60% of all PIK3CA mutations and have promising therapeutic implications. 29523855 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.760 GeneticVariation BEFREE Formalin-fixed paraffin-embedded tumour specimens from 118 HER2-overexpressing breast cancer patients treated with radical local therapy and trastuzumab in adjuvant setting were used for the assessment of: (1) PIK3CA gene mutations (p.H1047R and p.E545K) by qPCR, and (2) expression of Ki-67, EGFR, MUC4, HER3 and PTEN by immunohistochemistry. 28123607 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.760 GeneticVariation BEFREE Using a variety of physiologically relevant model systems with defined natural or knock-in PIK3CA mutations and/or PI3K hyperactivation, we show that PIK3CA-E545K mutations (found in ∼20% of PIK3CA-mutant breast cancers), but not PIK3CA-H1047R mutations (found in 55% of PIK3CA-mutant breast cancers), preferentially activate AKT1. 27197157 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.760 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
0.760 GeneticVariation BEFREE We further validated the approach in breast cancer cells with mutational activation of PIK3CA, where tandem mass spectrometry detected and quantitatively measured the abundance of a helical domain mutant (E545K) of PIK3CA connected to PI3K activation. 21775521 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.760 GeneticVariation UNIPROT PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma. 16353168 2006
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 GeneticVariation BEFREE Similarly, in human HCC cell lines, silencing of SGK3 reduced PIK3CA(E545K) -but not PIK3CA(H1047R)- induced accelerated tumor cell proliferation. 30975125 2019
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.720 GeneticVariation BEFREE Mutations in exons 9 (E542K, E545G, E545K) and 20 (H1047L and H1047R) of PI3K were determined by direct sequencing in 130 cases of GBC. 26947513 2016
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.720 GeneticVariation BEFREE The E545K mutation promoted GBC progression through enhanced binding to EGFR and activating downstream akt activity. 27317099 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 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
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
0.710 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
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016