Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
0.800 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

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE Compared to MMTV-Her-2 transgenic mouse mammary tumors, H1047R tumors showed increased upregulation of Wnt/β-catenin/Axin2, hepatocyte growth factor (Hgf)/Stat3, insulin-like growth factor 2 (Igf-2), and Igf-1R pathways. 28296140

2017

dbSNP: rs121913279
rs121913279
0.800 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

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE One tumour with a PIK3CA H1047R mutation also had a KRAS Q61H mutation. 27441415

2017

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE A positive association between the PIK3CA (H1047R) mutation and the patients' age was first found, except for the negative relationship with the degree of tumor differentiation. 27405731

2016

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE One metastatic sample with mutated KRAS also harbored a PIK3CA (H1047R) mutation. qPCR showed increased copy numbers of PIK3CA in 6 (33%) tumors, VEGFR1 in 0 (0%) tumors, VEGFR2 in 4 (22%) tumors, and VEGFR3 in 6 (33%) tumors. 25641339

2015

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE Interestingly, expression of Pik3ca(H1047R) in unipotent basal cells gave rise to luminal-like cells, while its expression in unipotent luminal cells gave rise to basal-like cells before progressing into invasive tumours. 26266985

2015

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE Here we show that expression of PIK3CA(H1047R</span>) in lineage-committed basal Lgr5-positive and luminal keratin-8-positive cells of the adult mouse mammary gland evokes cell dedifferentiation into a multipotent stem-like state, suggesting this to be a mechanism involved in the formation of heterogeneous, multi-lineage mammary tumours. 26266975

2015

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE PIK3CA(H1047R) expression alone failed to promote tumor formation, but dramatically enhanced tumorigenesis initiated by KRAS(G12D). 26567140

2015

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE PIK3CA exon 9 mutations (Q546R, E542Q, E545K, E542K and E545D) were found in 10 tumor samples, exon 20 mutations (H1047L, H1047R, T1025T and G1049R) in 21, where only 1 tumor sample had two exon 20 mutations (T1025T and H1047R). 25422220

2014

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE Sequencing of tumors identified seven PIK3CA exon 20 mutations (H1047R) and three exon 9 mutations (E545K). 24504125

2014

dbSNP: rs121913279
rs121913279
G 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE To model PIK3CA-activating mutations in late stages of cancer, we took advantage of the isogenic conversion of a PIK3CA-wild-type tumor into a PIK3CA H1047R-mutated tumor using the highly metastatic colorectal cancer cell line SW48. 23986086

2013

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE Here, we utilize a three-dimensional (3D) culture model to address how interactions between autophagy and the phosphatidylinositol 3-kinase(PI3K)/Akt/mammalian target of rapamycin pathway impact the malignant behavior of cells carrying a tumor-derived, activating mutation in PI3K (PI3K-H1047R). 22777351

2013

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE These data suggest that PIK3CA(H1047R)-driven tumor growth and PI3K signaling can occur independently of ErbB RTKs. 23633485

2013

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE Whole-exome analysis of the Pik3ca(H1047R)-driven mammary tumors identified multiple mutations, including Trp53 mutations that appeared spontaneously during the development of adenocarinoma and spindle cell tumors. 22370636

2013

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE In the present study, we show that the expression of mutant PIK3CA H1047R in the luminal mammary epithelium evokes heterogeneous tumors that express luminal and basal markers and are positive for the estrogen receptor. 21482677

2011

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE Notably, most PIK3CA(H1047R)-driven mammary tumors recurred after PIK3CA(H1047R) inactivation. 21822287

2011

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE For the first-time we demonstrated a PIK3CA mutation (H1047L) simultaneously occurring with a 15-bp deletion in KIT exon 11 in one tumor. 21906875

2011

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE By contrast, we did not found any tumour harbouring H1047R mutation in exon 20. 20571907

2011

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE The target of rapamycin inhibitor RAD001 blocks tumor growth induced by the H1047R p110alpha mutant. 16432179

2006

dbSNP: rs121913279
rs121913279
0.800 GeneticVariation BEFREE The exon 20 A3140G (H1047R) substitution was identified most frequently (22/31, 71%) and showed a significant association with patient age (p = 0.043) and stage of the disease (p = 0.025), but not with ER/PR status or histological grade of the tumor. 16582596

2006