|
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 |
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 |
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
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
In this study, we report the development of a knock-in mouse model for breast cancer where the endogenous Pik3ca allele was modified to allow tissue-specific conditional expression of a frequently found Pik3ca(H1047R) (Pik3ca(e20H1047R)) mutant allele.
|
22370636 |
2013 |
|
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 |
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
|
|
Malignant neoplasm of breast
|
|
0.800 |
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 |
|
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
|
|
Malignant neoplasm of breast
|
|
0.800 |
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 |
|
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 |
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 |
Notably, most PIK3CA(H1047R)-driven mammary tumors recurred after PIK3CA(H1047R) inactivation.
|
21822287 |
2011 |
|
rs121913279
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
In trastuzumab-resistant BT474 H1047R breast cancer xenografts, NVP-BEZ235 inhibited PI3K signaling and had potent antitumor activity.
|
18829560 |
2008 |
|
rs121913279
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
The target of rapamycin inhibitor RAD001 blocks tumor growth induced by the H1047R p110alpha mutant.
|
16432179 |
2006 |
|
rs121913279
|
|
Malignant neoplasm of breast
|
|
0.800 |
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 |
|
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 |
|
rs104886003
|
|
Malignant neoplasm of breast
|
|
0.760 |
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 |
|
rs104886003
|
|
Malignant neoplasm of breast
|
|
0.760 |
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 |
|
rs104886003
|
|
Malignant neoplasm of breast
|
|
0.760 |
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 |
|
rs104886003
|
|
Malignant neoplasm of breast
|
|
0.760 |
GeneticVariation
|
BEFREE |
Using a variety of physiologically relevant model systems with defined natural or knock-in PIK3CA mutations and/or PI3K hyperactivation, we show that PIK3CA-E545K mutations (found in ∼20% of PIK3CA-mutant breast cancers), but not PIK3CA-H1047R mutations (found in 55% of PIK3CA-mutant breast cancers), preferentially activate AKT1.
|
27197157 |
2016 |
|
rs104886003
|
|
Malignant neoplasm of breast
|
|
0.760 |
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 |
|
rs104886003
|
|
Malignant neoplasm of breast
|
|
0.760 |
GeneticVariation
|
BEFREE |
We further validated the approach in breast cancer cells with mutational activation of PIK3CA, where tandem mass spectrometry detected and quantitatively measured the abundance of a helical domain mutant (E545K) of PIK3CA connected to PI3K activation.
|
21775521 |
2011 |
|
rs121913279
|
|
Mammary Neoplasms
|
|
0.740 |
GeneticVariation
|
BEFREE |
All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutations in both MET (p.T992I) and PIK3CA (p.H1047R).
|
24318467 |
2014 |
|
rs121913279
|
|
Mammary Neoplasms
|
|
0.740 |
GeneticVariation
|
BEFREE |
We found that activation of the latent Pik3ca(H1047R) allele resulted in breast tumors with multiple histological types.
|
22370636 |
2013 |