rs121913279
|
|
Neoplasms
|
|
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
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
PIK3CA(H1047R) expression alone failed to promote tumor formation, but dramatically enhanced tumorigenesis initiated by KRAS(G12D).
|
26567140 |
2015 |
rs121913279
|
|
Neoplasms
|
|
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
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
By contrast, we did not found any tumour harbouring H1047R mutation in exon 20.
|
20571907 |
2011 |
rs121913279
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
Sequencing of tumors identified seven PIK3CA exon 20 mutations (H1047R) and three exon 9 mutations (E545K).
|
24504125 |
2014 |
rs121913279
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
One tumour with a PIK3CA H1047R mutation also had a KRAS Q61H mutation.
|
27441415 |
2017 |
rs121913279
|
|
Neoplasms
|
|
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
|
|
Neoplasms
|
|
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 |
rs121913279
|
|
Neoplasms
|
|
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 |
rs121913279
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
The target of rapamycin inhibitor RAD001 blocks tumor growth induced by the H1047R p110alpha mutant.
|
16432179 |
2006 |
rs121913279
|
|
Neoplasms
|
|
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
|
|
Neoplasms
|
|
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
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
Notably, most PIK3CA(H1047R)-driven mammary tumors recurred after PIK3CA(H1047R) inactivation.
|
21822287 |
2011 |
rs121913279
|
|
Neoplasms
|
|
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 |
rs121913279
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
These data suggest that PIK3CA(H1047R)-driven tumor growth and PI3K signaling can occur independently of ErbB RTKs.
|
23633485 |
2013 |
rs121913279
|
|
Neoplasms
|
|
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 |
rs121913279
|
|
Neoplasms
|
|
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 |
rs121913279
|
|
Neoplasms
|
|
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 |
rs121913279
|
|
Neoplasms
|
|
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 |
rs121913279
|
|
Neoplasms
|
|
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 |
rs121913279
|
|
Neoplasms
|
|
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 |
rs113488022
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
Knockdown of STAG2 or STAG3 expression decreased sensitivity of BRAF(Val600Glu)-mutant melanoma cells and xenograft tumors to BRAFi.
|
27500726 |
2016 |
rs113488022
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
In melanoma, oncogenic BRAF(V600E) has been shown to drive the transcription of a specific gene signature that can promote multiple mechanisms of immune suppression within the tumor microenvironment.
|
25795007 |
2015 |
rs113488022
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
BRAF V600E mutation testing of colorectal tumors demonstrating aberrant MLH1 protein expression by IHC was the most common secondary tumor test, with 53% of laboratories performing the test; 15% of laboratories also applied the BRAF V600E test to endometrial tumors with aberrant MLH1 expression despite no evidence for its utility.
|
30294856 |
2018 |
rs113488022
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
Combining caveolin-1 and BRAF V600E with EGFR might help in recognizing more aggressive thyroid lesions in a pool of relatively indolent tumors in FNA biopsies and thus be useful for early risk stratification of thyroid cancer patients.
|
27818286 |
2017 |