Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913284
rs121913284
0.010 GeneticVariation BEFREE A PIK3CA T1035A mutation present in a BC-PDX tumor was confirmed in isolated single CTCs and cells from dissociated metastatic nodules after whole genome amplification and sequencing. 30871481

2019

dbSNP: rs121913275
rs121913275
0.010 GeneticVariation BEFREE Four PIK3CA mutations (p.G106A, p.N345T, p.E545K, and p.E545D) were detected in 3 tumors, 2 of which also harbored TP53 mutations. 29505425

2018

dbSNP: rs121913272
rs121913272
0.010 GeneticVariation BEFREE In 3 CCs, the main tumor tissue had also PIK3CA mutations (C420R: 1; E545K: 1; H1047R: 1), and in 1, it showed NRAS mutation (codon 12). 28025078

2017

dbSNP: rs397517201
rs397517201
0.010 GeneticVariation BEFREE Mutations in primary tumors were identified in three regions; KARS (G13D) and APC (R876*) in P1-2, TP53 (A161S) in P1-3, and KRAS (G12D), PIK3CA (Q546R), and ERBB4 (T272A) in P1-4. 25623536

2015

dbSNP: rs121913277
rs121913277
0.010 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: rs121913273
rs121913273
0.030 GeneticVariation BEFREE A specimen from the tumor site that subsequently manifested rapid clinical progression contained a <i>PIK3CA</i> mutation E542K, and yielded propagating xenografts that retained the OD/AOD-defining genomic alterations (<i>IDH1</i><sup>R132H</sup> and 1p/19q codeletion) and <i>PIK3CA</i><sup>E542K</sup>, and displayed characteristic sensitivity to alkylating chemotherapeutic agents. 30975663

2019

dbSNP: rs121913273
rs121913273
0.030 GeneticVariation BEFREE PIK3CA mutations were predominantly occurred in p.E545K and p.E542K on exon 9 in moderately to poorly differentiated tumors. 30266251

2019

dbSNP: rs121913273
rs121913273
0.030 GeneticVariation BEFREE PIK3CA mutations were detected in 25% of tumors and 26% of cell lines with a significant excess of helical domain mutations (E542K and E545K). 19789314

2009

dbSNP: rs104886003
rs104886003
0.100 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: rs104886003
rs104886003
0.100 GeneticVariation BEFREE PIK3CA mutations were predominantly occurred in p.E545K and p.E542K on exon 9 in moderately to poorly differentiated tumors. 30266251

2019

dbSNP: rs104886003
rs104886003
0.100 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: rs104886003
rs104886003
0.100 GeneticVariation BEFREE The E545K mutation promoted proliferation, migration and invasion of GBC cells in vitro and tumor proliferation in vivo. 27317099

2016

dbSNP: rs104886003
rs104886003
0.100 GeneticVariation BEFREE Moreover, PIK3CA hotspot mutations (c.1624G>A [p.Glu542Lys] and c.1633G>A [p.Glu545Lys]) were enriched in APOBEC-signature tumors, and no smoking-associated signature was observed in ESCC. 25839328

2015

dbSNP: rs104886003
rs104886003
0.100 GeneticVariation BEFREE As a proof of the concept, we present the case of a metastatic patient with a PIK3CA wild-type primary tumor in which the PIK3CA E545K mutation was identified in both the circulating-free DNA obtained from a peripheral blood sample and in the formalin-fixed, paraffin-embedded liver metastasis. 26001593

2015

dbSNP: rs104886003
rs104886003
0.100 GeneticVariation BEFREE Sequencing of tumors identified seven PIK3CA exon 20 mutations (H1047R) and three exon 9 mutations (E545K). 24504125

2014

dbSNP: rs104886003
rs104886003
0.100 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: rs104886003
rs104886003
0.100 GeneticVariation BEFREE KRAS mutations were detected in 4 (3%) of 117 tumors (3× G12D and 1 G12V mutation).One tumor had a PIK3CA E545K mutation. 23158210

2013

dbSNP: rs104886003
rs104886003
0.100 GeneticVariation BEFREE PIK3CA mutations were detected in 25% of tumors and 26% of cell lines with a significant excess of helical domain mutations (E542K and E545K). 19789314

2009

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 One tumour with a PIK3CA H1047R mutation also had a KRAS Q61H mutation. 27441415

2017

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 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 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 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