Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
0.080 GeneticVariation BEFREE Since the PI3Kα isoform is implicated mostly in cancer, we conducted a high-throughput screening (HTS) campaign using a 3-step PI3K homogenous time-resolved fluorescence assay against this isoform bearing the H1047R mutation. 29991713

2018

dbSNP: rs121913279
rs121913279
0.080 GeneticVariation BEFREE The sequencing identified two hotspot mutations in exon 20 of one cancer samples at p. H1047L (c. 3140A > T) and eight cancer sample at p. H1047R (c. 3140A > G). 28269754

2017

dbSNP: rs121913279
rs121913279
0.080 GeneticVariation BEFREE The cell proliferation and migration of cancer cells bearing H1047R mutation were also reduced by P6-55. 28743532

2017

dbSNP: rs121913279
rs121913279
0.080 GeneticVariation BEFREE We developed a sensitive, simple and rapid approach to detect the low-abundance PIK3CA (H1047R) mutation in real CRC specimens, providing an effective tool for guiding cancer targeted therapy. 27405731

2016

dbSNP: rs121913279
rs121913279
0.080 GeneticVariation BEFREE Our results define a key effect of PIK3CA(H1047R) on mammary cell fate in the pre-neoplastic mammary gland and show that the cell of origin of PIK3CA(H1047R) tumours dictates their malignancy, thus revealing a mechanism underlying tumour heterogeneity and aggressiveness. 26266975

2015

dbSNP: rs121913279
rs121913279
0.080 GeneticVariation BEFREE Understanding how the H1047R mutation causes the enhanced activity of the protein in atomic detail is central to developing mutant-specific therapeutics for cancer. 25340423

2014

dbSNP: rs121913279
rs121913279
0.080 GeneticVariation BEFREE One EBV-positive cancer with PIK3CA mutation (H1047R) was MSI-positive. 23236232

2012

dbSNP: rs121913279
rs121913279
0.080 GeneticVariation BEFREE We performed exome sequencing of DNA from unaffected and affected cells from an individual with an unclassified syndrome of congenital progressive segmental overgrowth of fibrous and adipose tissue and bone and identified the cancer-associated mutation encoding p.His1047Leu in PIK3CA, the gene that encodes the p110α catalytic subunit of PI3K, only in affected cells. 22729222

2012

dbSNP: rs104886003
rs104886003
0.030 GeneticVariation BEFREE This study offers evidence that personalizing treatment of ER-positive breast cancers to PI3K inhibitor therapy may benefit from an analysis of PIK3CA-E545K-AKT1-estrogen signaling pathways.Cancer Res; 76(13); 3989-4001.©2016 AACR. 27197157

2016

dbSNP: rs104886003
rs104886003
0.030 GeneticVariation BEFREE Expression of Pik3ca with E545K mutation alone was unable to cause hyperplasia or cancer in the uterus and did not activate Akt as effectively as Pten deletion in short-term cultures of mouse endometrial epithelium, likely explaining the lack of phenotype in vivo. 25698082

2015

dbSNP: rs104886003
rs104886003
0.030 GeneticVariation BEFREE Disruption of the IRS1-p110α E545K interaction destabilizes the p110α protein, reduces AKT phosphorylation, and slows xenograft tumor growth of a cancer cell line expressing p110α E545K. 23643389

2013

dbSNP: rs2699887
rs2699887
0.010 GeneticVariation BEFREE Epidemiologic studies suggested that mutations of the PI3K/PTEN/AKT pathway genes are associated with cancer risk, yet no data are available for PTEN rs701848, PIK3CA rs2699887, and AKT1 rs2494752 polymorphism and breast cancer(BC) risk. 28423632

2017

dbSNP: rs778184105
rs778184105
0.010 GeneticVariation BEFREE This combination treatment ultimately leads to the expansion of cancer progenitors with a PTEN E91D mutation, suggesting that the analysis of PTEN mutations could predict therapeutic response to the dual therapy. 21138868

2010