|
rs587777790
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Structural prediction, whole exome sequencing and molecular dynamics simulation confirms p.G118D somatic mutation of PIK3CA as functionally important in breast cancer patients.
|
31174159 |
2019 |
|
rs6443624
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNPs of FGFR2 rs1219648 and PI3KCA rs6443624 may contribute to the identification of breast cancer patients at risk of more aggressive disease and may be potential prognostic factors in breast cancer in a Chinese population.
|
29872343 |
2018 |
|
rs2699887
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Epidemiologic studies suggested that mutations of the PI3K/PTEN/AKT pathway genes are associated with cancer risk, yet no data are available for PTEN rs701848, PIK3CA rs2699887, and AKT1 rs2494752 polymorphism and breast cancer(BC) risk.
|
28423632 |
2017 |
|
rs17849071
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among different BCa intrinsic subtypes, no significant differences were found on P53 expression status (P = 0.356) or rs17849071 polymorphism (T>G) (P = 0.813).
|
24908061 |
2014 |
|
rs17849079
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we have shown a high prevalence (8.2-fold) of a silent variant (SNP, rs17849079) in the Arab breast cancer population compared with disease-free individuals.
|
23982433 |
2013 |
|
rs397517201
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.
|
16353168 |
2006 |
|
rs1057519927
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs121913281
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121913286
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs1560137609
|
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs121913273
|
|
|
0.730 |
GeneticVariation |
BEFREE |
ORR and 6 m PFS were both 5.6% (1/18), with one patient with HR+ breast cancer and a PIK3CA E542K mutation experiencing a partial response (on treatment for 36 weeks).
|
31277699 |
2019 |
|
rs121913273
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We attempted to develop a highly sensitive and specific method for the detection of circulating tumor DNA (ctDNA) using a digital PCR (dPCR) assay for PIK3CA mutations (i.e., H1047R, E545K, and E542K) in primary breast cancer patients.
|
25736040 |
2015 |
|
rs121913273
|
|
|
0.730 |
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 |
|
rs121913273
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs104886003
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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 |
|
rs104886003
|
|
|
0.760 |
GeneticVariation |
UNIPROT |
PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.
|
16353168 |
2006 |
|
rs121913279
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We aimed to detect the tumor-derived free DNA in metastasis-free LNs in patients with breast cancers harboring the PIK3CA-H1047R mutation.
|
30805870 |
2019 |
|
rs121913279
|
|
|
0.800 |
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 |
|
rs121913279
|
|
|
0.800 |
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 |
|
rs121913279
|
|
|
0.800 |
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 |