Megalencephaly cutis marmorata telangiectatica congenita
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."
|
26593112 |
2016 |
Megalencephaly cutis marmorata telangiectatica congenita
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
|
22729224 |
2012 |
Seborrheic keratosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R.
|
17673550 |
2007 |
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional analysis of PIK3CA gene mutations in human colorectal cancer.
|
15930273 |
2005 |
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The prevalence of PIK3CA mutations in gastric and colon cancer.
|
15994075 |
2005 |
Colorectal Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
Seborrheic keratosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
Malignant neoplasm of breast
|
|
0.760 |
GeneticVariation
|
UNIPROT |
PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.
|
16353168 |
2006 |
Liver carcinoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
Similarly, in human HCC cell lines, silencing of SGK3 reduced PIK3CA(E545K</span>) -but not PIK3CA(H1047R)- induced accelerated tumor cell proliferation.
|
30975125 |
2019 |
Gallbladder Carcinoma
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Gallbladder Carcinoma
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Liver carcinoma
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Gallbladder Carcinoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
Mutations in exons 9 (E542K, E545G, E545K) and 20 (H1047L and H1047R) of PI3K were determined by direct sequencing in 130 cases of GBC.
|
26947513 |
2016 |
Liver carcinoma
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Gallbladder Carcinoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
The E545K mutation promoted GBC progression through enhanced binding to EGFR and activating downstream akt activity.
|
27317099 |
2016 |
Liver carcinoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%).
|
18181165 |
2008 |
Mammary Neoplasms
|
|
0.710 |
CausalMutation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Esophageal carcinoma
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |