|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The target of rapamycin inhibitor RAD001 blocks tumor growth induced by the H1047R p110alpha mutant.
|
16432179 |
2006 |
|
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 |
|
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 |
|
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 |
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
By contrast, we did not found any tumour harbouring H1047R mutation in exon 20.
|
20571907 |
2011 |
|
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 |
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Notably, most PIK3CA(H1047R)-driven mammary tumors recurred after PIK3CA(H1047R) inactivation.
|
21822287 |
2011 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Sequencing of tumors identified seven PIK3CA exon 20 mutations (H1047R) and three exon 9 mutations (E545K).
|
24504125 |
2014 |
|
rs104886003
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Sequencing of tumors identified seven PIK3CA exon 20 mutations (H1047R) and three exon 9 mutations (E545K).
|
24504125 |
2014 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
PIK3CA(H1047R) expression alone failed to promote tumor formation, but dramatically enhanced tumorigenesis initiated by KRAS(G12D).
|
26567140 |
2015 |