|
Salivary duct carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The only case of SDC with anaplastic transformation showed PIK3CA p.H1047R mutation, whereas 1 of 2 PIK3CA p.E542K mutations was identified in SDC arising in a pleomorphic adenoma.
|
23851329 |
2013 |
|
Rosette-forming glioneuronal neoplasm
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Renal Cell Carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Renal Cell Carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
PTEN Hamartoma Tumor Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Proteus-Like Syndrome (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Progressive Neoplastic Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Whole exome sequencing performed in tumor tissue obtained at the time of progressive disease demonstrated a somatic gain-of-function PIK3CA mutation (H1047R) as well as a CDKN2A aberration, which may have contributed to eventual resistance to treatment.
|
23470635 |
2013 |
|
Progressive cGVHD
|
|
0.010 |
GeneticVariation
|
BEFREE |
Whole exome sequencing performed in tumor tissue obtained at the time of progressive disease demonstrated a somatic gain-of-function PIK3CA mutation (H1047R) as well as a CDKN2A aberration, which may have contributed to eventual resistance to treatment.
|
23470635 |
2013 |
|
Primary malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
We further observed that oncogenic cooperation between KRAS(G12D) and PIK3CA(H1047R) was accompanied by PI3Kα-mediated regulation of c-MYC, GSK3β, p27(KIP1), survivin, and components of the RB pathway, resulting in accelerated cell division of human or mouse lung cancer-derived cell lines.
|
26567140 |
2015 |
|
Primary malignant neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
Since the PI3Kα isoform is implicated mostly in cancer, we conducted a high-throughput screening (HTS) campaign using a 3-step PI3K homogenous time-resolved fluorescence assay against this isoform bearing the H1047R mutation.
|
29991713 |
2018 |
|
Primary malignant neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
We developed a sensitive, simple and rapid approach to detect the low-abundance PIK3CA (H1047R) mutation in real CRC specimens, providing an effective tool for guiding cancer targeted therapy.
|
27405731 |
2016 |
|
Primary malignant neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
One EBV-positive cancer with PIK3CA mutation (H1047R) was MSI-positive.
|
23236232 |
2012 |
|
Primary malignant neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
We performed exome sequencing of DNA from unaffected and affected cells from an individual with an unclassified syndrome of congenital progressive segmental overgrowth of fibrous and adipose tissue and bone and identified the cancer-associated mutation encoding p.His1047Leu in PIK3CA, the gene that encodes the p110α catalytic subunit of PI3K, only in affected cells.
|
22729222 |
2012 |
|
Primary malignant neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
The sequencing identified two hotspot mutations in exon 20 of one cancer samples at p. H1047L (c. 3140A > T) and eight cancer sample at p. H1047R (c. 3140A > G).
|
28269754 |
2017 |
|
Primary malignant neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
Understanding how the H1047R mutation causes the enhanced activity of the protein in atomic detail is central to developing mutant-specific therapeutics for cancer.
|
25340423 |
2014 |
|
Primary malignant neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
Our results define a key effect of PIK3CA(H1047R) on mammary cell fate in the pre-neoplastic mammary gland and show that the cell of origin of PIK3CA(H1047R) tumours dictates their malignancy, thus revealing a mechanism underlying tumour heterogeneity and aggressiveness.
|
26266975 |
2015 |
|
Primary malignant neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
The cell proliferation and migration of cancer cells bearing H1047R mutation were also reduced by P6-55.
|
28743532 |
2017 |
|
PIK3CA related overgrowth spectrum
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
PIK3CA related overgrowth spectrum
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Pancreatic intraepithelial neoplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we show that expression of BRAF(V600E), but not PIK3CA(H1047R), in the mouse pancreas leads to pancreatic intraepithelial neoplasia (PanIN) lesions.
|
22628411 |
2012 |
|
Overgrowth Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
This overgrowth syndrome is unique and is caused by the somatic PIK3CA mutation c.3140A>G.
|
30180809 |
2018 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
ovarian neoplasm
|
|
0.710 |
CausalMutation
|
CLINVAR |
Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic.
|
15647370 |
2005 |
|
ovarian neoplasm
|
|
0.710 |
CausalMutation
|
CLINVAR |
PI3K/AKT/mTOR inhibitors in patients with breast and gynecologic malignancies harboring PIK3CA mutations.
|
22271473 |
2012 |