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rs121913279
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|
Adenocarcinoma of lung (disorder)
|
|
0.710 |
GeneticVariation
|
BEFREE |
Here we report measurements of PIK3CA H1047R mutant fraction (MF) in normal colonic mucosa, normal lung, colonic adenomas, colonic adenocarcinomas, and lung adenocarcinomas.
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28755461 |
2017 |
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rs1057519941
|
|
Adenocarcinoma of lung (disorder)
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|
0.010 |
GeneticVariation
|
BEFREE |
Detection of PIK3CA mutations, including a novel mutation of V344G in exon 4, in metastatic lung adenocarcinomas: A retrospective study of 115 FNA cases.
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27007084 |
2016 |
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rs121913279
|
|
Adenoma
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|
0.010 |
GeneticVariation
|
BEFREE |
Here we report measurements of PIK3CA H1047R mutant fraction (MF) in normal colonic mucosa, normal lung, colonic adenomas, colonic adenocarcinomas, and lung adenocarcinomas.
|
28755461 |
2017 |
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rs121913273
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|
Adult Anaplastic Oligodendroglioma
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|
0.010 |
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 |
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rs121913279
|
|
Anaplasia
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|
0.010 |
GeneticVariation
|
BEFREE |
Here we show that expression of PIK3CA(H1047R) 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 |
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rs121913273
|
|
Anaplastic Oligodendroglioma
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|
0.010 |
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 |
|
rs121913279
|
|
Anaplastic thyroid carcinoma
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|
0.010 |
GeneticVariation
|
BEFREE |
Here, we use mice carrying a conditional allele of PIK3CA to demonstrate that, although mutationally activated PIK3CA(H1047R) is unable to drive transformation on its own, when combined with BRAF(V600E) in thyrocytes, this leads to development of lethal ATC in mice.
|
24770869 |
2014 |
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rs121913279
|
|
Apocrine metaplasia
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|
0.010 |
GeneticVariation
|
BEFREE |
Histopathological review of these three normal breast specimens showed columnar cell change in two (both with known H1047R mutations) and apocrine metaplasia in one.
|
23541593 |
2013 |
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rs121913279
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Biliary Tract Cancer
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|
0.010 |
GeneticVariation
|
BEFREE |
Another matched serum sample (BTC 27P) was positive for PIK3CA p.H1047R with 10 mutant copies detected, i.e.
|
26498688 |
2015 |
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rs121913273
|
|
Biliary Tract Cancer
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|
0.010 |
GeneticVariation
|
BEFREE |
Matched serum sample (BTC 29P) was positive for PIK3CA p.E542K</span> with 28 mutant copies detected, corresponding to 48 copies/ml of serum and an allelic prevalence of 0.3%.
|
26498688 |
2015 |
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rs104886003
|
|
Biliary Tract Cancer
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|
0.010 |
GeneticVariation
|
BEFREE |
Only one (BTC 29T) sample (n = 38) was positive for PIK3CA p.E542K and another (BTC 27T) for p.H1047R mutation; none was positive for PIK3CA p.E545K.
|
26498688 |
2015 |
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rs6443624
|
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Bladder Neoplasm
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|
0.010 |
GeneticVariation
|
BEFREE |
The findings proposed that the <i>PIK3CA</i> rs6443624 SNP significantly decreased the risk of BC (OR=0.44, 95 % CI=0.30-0.65, p<0.0001 CA vs CC; OR=0.35, 95 % CI=0.16-0.78, p=0.0107, AA vs CC; OR=0.60, 95 % CI=0.46-0.79, p=0.0002, A vs T).
|
29383014 |
2018 |
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rs121913279
|
|
Bladder Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Potential predictive biomarkers for pictilisib were evaluated, and RNA sequencing was performed to explore drug resistance mechanisms.<b>Results:</b> The bladder cancer cell line TCCSUP, which harbors a <i>PIK3CA</i> E545K mutation, was sensitive to pictilisib compared to cell lines with wild-type <i>PIK3CA</i> Pictilisib exhibited stronger antitumor activity in bladder cancer PDX models with <i>PI3KCA</i> H1047R mutation or amplification than the control PDX model.
|
28808038 |
2017 |
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rs121913279
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|
Breast Carcinoma
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|
0.100 |
GeneticVariation
|
BEFREE |
In trastuzumab-resistant BT474 H1047R breast cancer xenografts, NVP-BEZ235 inhibited PI3K signaling and had potent antitumor activity.
|
18829560 |
2008 |
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rs121913279
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|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common activating mutations in human breast cancer (BC), and the efficacy of neoadjuvant chemotherapy (NCT).Using a novel liquid chip technology,PIK3CA DNA somatic mutations and HER2, PTEN, EGFR mRNA expression profiles were analyzed in formalin fixed paraffin embedded samples of 93 BC patients treated with epirubicin plus docetaxel NCT.PIK3CA mutations were found in 30 patients (32.3%), in which the point mutations of E542K, E545K, H1047L and H1047R were 4.3, 9.7, 4.3 and 14.0%respectively.
|
25027743 |
2014 |
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rs121913279
|
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Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
In this study, we directly compared PIK3CA hotspot mutations (E545K, H1047R) in EpCAM-positive CTCs and paired plasma-ctDNA in breast cancer (BrCa).
|
31254443 |
2019 |
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rs121913279
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
This derivative showed low micromolar cytotoxic potency in all BrCa cell lines, a mild inhibition of the PI3Kα wild type and H1047R mutated enzyme and excellent pharmacokinetic parameters following oral and intraperitoneal administration at the designed dose of 10 mg/kg, with absence of in vivo phenotypic toxicity.
|
28006668 |
2017 |
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rs121913279
|
|
Breast Carcinoma
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|
0.100 |
GeneticVariation
|
BEFREE |
The incidence of point mutations in PIK3CA, the A3140G substitution in particular, in Singapore breast cancers are among the most frequent reported to date for any gene in breast cancer.
|
16582596 |
2006 |
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rs121913279
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|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a mouse model of breast cancer conditionally expressing human PIK3CA(H1047R).
|
21822287 |
2011 |
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rs121913279
|
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Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The results suggest PIK3CA H1047R mutant cells have a selective advantage in breast, contribute to breast cancer susceptibility, and drive tumor progression during breast carcinogenesis, even when present as only a subpopulation of tumor cells.
|
27108388 |
2016 |
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rs121913279
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
PIK3CA mutations are seemingly the most common driver mutations in breast cancer with H1047R and E545K being the most common of these, accounting together for around 60% of all PIK3CA mutations and have promising therapeutic implications.
|
29523855 |
2018 |
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rs121913279
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The hotspot mutation H1047R in the oncogenic PIK3CA gene is frequently detected in breast cancer and enhances the enzymatic activity of PI3K to activate AKT/mTOR signaling cascade.
|
30671946 |
2019 |
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rs121913279
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1047R exon 20 mutant of PIK3CA in luminal mammary epithelial cells induces tumorigenesis, implying that PIK3CA mutation is an early event in breast cancer.
|
22315990 |
2012 |
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rs121913279
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|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The aim of this study was to analyze the efficacy of PI3K/mTOR blockade in breast cancer brain metastases models.<b>Experimental Design:</b> The efficacy of GDC-0084 was evaluated in <i>PIK3CA</i>-mutant and <i>PIK3CA</i> wild-type breast cancer cell lines and the isogenic pairs of <i>PIK3CA</i> wild-type and mutant (H1047R/+) MCF10A cells <i>in vitro</i>.
|
30796030 |
2019 |
|
rs121913279
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Gene set enrichment analysis reveals a highly significant concordance of the genes differentially expressed in MCF-10A-H1047R cells and the established protein and RNA signatures of basal breast cancer.
|
25583473 |
2015 |