|
Carcinoma breast stage IV
|
|
0.010 |
GeneticVariation
|
BEFREE |
Everolimus in hormone receptor-positive metastatic breast cancer: PIK3CA mutation H1047R was a potential efficacy biomarker in a retrospective study.
|
31088410 |
2019 |
|
Trichohepatoenteric Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140A>G, p.His1047Arg.
|
30180809 |
2018 |
|
Overgrowth Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
This overgrowth syndrome is unique and is caused by the somatic PIK3CA mutation c.3140A>G.
|
30180809 |
2018 |
|
Malignant neoplasm of urinary bladder
|
|
0.010 |
GeneticVariation
|
BEFREE |
Potential predictive biomarkers for pictilisib were evaluated, and RNA sequencing was performed to explore drug resistance mechanisms.<b>Results:</b> The bladder cancer cell line TCCSUP, which harbors a <i>PIK3CA</i> E545K mutation, was sensitive to pictilisib compared to cell lines with wild-type <i>PIK3CA</i> Pictilisib exhibited stronger antitumor activity in bladder cancer PDX models with <i>PI3KCA</i> H1047R mutation or amplification than the control PDX model.
|
28808038 |
2017 |
|
Squamous cell carcinoma of esophagus
|
|
0.010 |
GeneticVariation
|
BEFREE |
We examined five hotspot mutations in the PIK3CA gene (E542K, E545K, E546K, H1047R, and H1047L) in formalin-fixed and paraffin-embedded tissue sections of paired endoscopic biopsy and surgically resected specimens from 181 patients undergoing curative resection for ESCC between 2000 and 2011 using a Luminex technology-based multiplex gene mutation detection kit.
|
28068934 |
2017 |
|
Bladder Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Potential predictive biomarkers for pictilisib were evaluated, and RNA sequencing was performed to explore drug resistance mechanisms.<b>Results:</b> The bladder cancer cell line TCCSUP, which harbors a <i>PIK3CA</i> E545K mutation, was sensitive to pictilisib compared to cell lines with wild-type <i>PIK3CA</i> Pictilisib exhibited stronger antitumor activity in bladder cancer PDX models with <i>PI3KCA</i> H1047R mutation or amplification than the control PDX model.
|
28808038 |
2017 |
|
Carcinoma of bladder
|
|
0.010 |
GeneticVariation
|
BEFREE |
Potential predictive biomarkers for pictilisib were evaluated, and RNA sequencing was performed to explore drug resistance mechanisms.<b>Results:</b> The bladder cancer cell line TCCSUP, which harbors a <i>PIK3CA</i> E545K mutation, was sensitive to pictilisib compared to cell lines with wild-type <i>PIK3CA</i> Pictilisib exhibited stronger antitumor activity in bladder cancer PDX models with <i>PI3KCA</i> H1047R mutation or amplification than the control PDX model.
|
28808038 |
2017 |
|
Adenoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we report measurements of PIK3CA H1047R mutant fraction (MF) in normal colonic mucosa, normal lung, colonic adenomas, colonic adenocarcinomas, and lung adenocarcinomas.
|
28755461 |
2017 |
|
Malignant neoplasm of gallbladder
|
|
0.010 |
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 |
|
Stage IIA Gallbladder Cancer AJCC v8
|
|
0.010 |
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 |
|
Carcinoma, Ovarian Epithelial
|
|
0.010 |
GeneticVariation
|
BEFREE |
We also found that an activating (E545K) Pik3ca mutation, unlike Pten inactivation or Pik3ca H1047R mutation, cannot cooperate with Arid1a loss to promote ovarian cancer development in the mouse.
|
26279473 |
2016 |
|
Gallbladder Carcinoma
|
|
0.010 |
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 |
|
Stage III Gallbladder Cancer AJCC v8
|
|
0.010 |
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 |
|
Ductal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
However, the PIK3CA H1047R mutant fraction distributions for normal breast tissues and DCs were similar.
|
27108388 |
2016 |
|
Tumor Progression
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results suggest PIK3CA H1047R mutant cells have a selective advantage in breast, contribute to breast cancer susceptibility, and drive tumor progression during breast carcinogenesis, even when present as only a subpopulation of tumor cells.
|
27108388 |
2016 |
|
HER2-positive carcinoma of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the present study, we generated a compound mouse model that genetically mimics HER2-positive breast cancer with coexisting PIK3CA(H1047R).
|
26640141 |
2016 |
|
Venous malformation
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have generated a mouse model that faithfully mirrors human VM through mosaic expression of Pik3ca(H1047R), a constitutively active mutant of the p110α isoform of phosphatidylinositol 3-kinase (PI3K), in the embryonic mesoderm.
|
27030595 |
2016 |
|
Stage IIB Gallbladder Cancer AJCC v8
|
|
0.010 |
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 |
|
Congenital abnormality of vein
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have generated a mouse model that faithfully mirrors human VM through mosaic expression of Pik3ca(H1047R), a constitutively active mutant of the p110α isoform of phosphatidylinositol 3-kinase (PI3K), in the embryonic mesoderm.
|
27030595 |
2016 |
|
Stage 0 Gallbladder Cancer AJCC v8
|
|
0.010 |
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 |
|
Stage IV Gallbladder Cancer AJCC v8
|
|
0.010 |
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 |
|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although BRAF(V600E)/PIK3CA(H1047R) melanomas were sensitive to the antiproliferative effects of selective PI3Kα blockade, inhibition of BRAF(V600E)/PTEN(Null) melanoma proliferation required combined blockade of PI3Kα, PI3Kδ, and PI3Kγ, and was insensitive to PI3Kβ blockade.
|
25472943 |
2015 |
|
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 |
|
Lymphatic Abnormalities
|
|
0.010 |
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 |
|
Biliary Tract Cancer
|
|
0.010 |
GeneticVariation
|
BEFREE |
Another matched serum sample (BTC 27P) was positive for PIK3CA p.H1047R with 10 mutant copies detected, i.e.
|
26498688 |
2015 |