|
Lung Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using GEM models, we tested whether PI3'-lipid signaling was limiting for the promotion of KRAS(G12D)-driven lung tumors by inducing the expression of KRAS(G12D) in the absence and presence of the activating PIK3CA(H1047R) mutation.
|
26567140 |
2015 |
|
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 |
|
Anaplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we show that expression of PIK3CA(H1047R) in lineage-committed basal Lgr5-positive and luminal keratin-8-positive cells of the adult mouse mammary gland evokes cell dedifferentiation into a multipotent stem-like state, suggesting this to be a mechanism involved in the formation of heterogeneous, multi-lineage mammary tumours.
|
26266975 |
2015 |
|
Carcinoma 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 |
|
Lipomatosis, Multiple Symmetrical
|
|
0.010 |
GeneticVariation
|
BEFREE |
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.
|
24903541 |
2014 |
|
Anaplastic thyroid carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we use mice carrying a conditional allele of PIK3CA to demonstrate that, although mutationally activated PIK3CA(H1047R) is unable to drive transformation on its own, when combined with BRAF(V600E) in thyrocytes, this leads to development of lethal ATC in mice.
|
24770869 |
2014 |
|
Lipomatosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.
|
24903541 |
2014 |
|
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 |
|
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 |
|
Apocrine metaplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Histopathological review of these three normal breast specimens showed columnar cell change in two (both with known H1047R mutations) and apocrine metaplasia in one.
|
23541593 |
2013 |
|
Malignant neoplasm of endometrium
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutations in PIK3CA, TP53, PTEN and FBXW7 correlate with high tumor grade, endometrial cancer type and lymph node status, whereas PIK3CA H1047R mutations serve as prognostic markers for relapse-free survival in endometrial cancer patients.
|
23219661 |
2013 |
|
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 |
|
Endometrial Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutations in PIK3CA, TP53, PTEN and FBXW7 correlate with high tumor grade, endometrial cancer type and lymph node status, whereas PIK3CA H1047R mutations serve as prognostic markers for relapse-free survival in endometrial cancer patients.
|
23219661 |
2013 |
|
Secondary malignant neoplasm of colon and/or rectum
|
|
0.010 |
GeneticVariation
|
BEFREE |
To model PIK3CA-activating mutations in late stages of cancer, we took advantage of the isogenic conversion of a PIK3CA-wild-type tumor into a PIK3CA H1047R-mutated tumor using the highly metastatic colorectal cancer cell line SW48.
|
23986086 |
2013 |
|
Columnar Cell Change of the Breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Histopathological review of these three normal breast specimens showed columnar cell change in two (both with known H1047R mutations) and apocrine metaplasia in one.
|
23541593 |
2013 |
|
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 |
|
Osteosarcoma of bone
|
|
0.010 |
GeneticVariation
|
BEFREE |
Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma.
|
22006429 |
2012 |
|
Childhood Osteosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma.
|
22006429 |
2012 |
|
Osteosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma.
|
22006429 |
2012 |
|
Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
RNA sequencing and Sanger sequencing identified PIK3CA (p.E545K/p.H1047R) and/or HRAS (p.Q61R) hotspot mutations in 6 of 8 (75%) apocrine carcinomas.
|
29443014 |
2018 |
|
Hidradenoma Papilliferum
|
|
0.020 |
GeneticVariation
|
BEFREE |
Direct sequencing revealed the presence of somatic <i>PIK3CA</i> mutations (Ex9. c.1633G>A, p.E545K and Ex20. c.3140A>G, p.H1047R) in two of the HPs and an <i>AKT1</i> (c.49G>A, p.E17K) mutation in one.
|
27742746 |
2017 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.020 |
GeneticVariation
|
BEFREE |
Highly sensitive detection of the PIK3CA (H1047R) mutation in colorectal cancer using a novel PCR-RFLP method.
|
27405731 |
2016 |
|
Hidradenoma Papilliferum
|
|
0.020 |
GeneticVariation
|
BEFREE |
BRAF V600E mutation was found in an HP that also had a PIK3CA H1047R mutation.No RAS mutation was found.
|
27184479 |
2016 |
|
Mammary Tumorigenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Induction of PIK3CA(H1047R) expression in mouse mammary glands with constitutive expression of activated Her2/Neu resulted in accelerated mammary tumorigenesis with enhanced metastatic potential.
|
26640141 |
2016 |
|
Mammary Tumorigenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mammary tumorigenesis and emergence of mutations.
|
22370636 |
2013 |