|
rs121913279
|
|
|
0.090 |
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 |
|
rs121913279
|
|
|
0.090 |
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 |
|
rs121913279
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Furthermore, P6-55 was capable of inhibiting the elevated basal PI3K activity of H1047R, a hotspot mutation found in many types of human cancers.
|
28743532 |
2017 |
|
rs121913279
|
|
|
0.090 |
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 |
|
rs121913279
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The hotspot mutations c.1624G>A, c.1633G>A, and c.3140A>G (p.Glu542Lys, p.Glu545Lys, and p.His1047Arg), frequent in PIK3CA-associated cancers, overgrowth syndromes, and lymphatic malformation (LM), account for >92% of individuals who carry mutations.
|
26637981 |
2015 |
|
rs121913279
|
|
|
0.090 |
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 |
|
rs121913279
|
|
|
0.090 |
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 |
|
rs121913279
|
|
|
0.090 |
GeneticVariation |
BEFREE |
One EBV-positive cancer with PIK3CA mutation (H1047R) was MSI-positive.
|
23236232 |
2012 |
|
rs121913279
|
|
|
0.090 |
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 |