|
rs104886003
|
|
Carcinoma, Endometrioid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Reviewing of slides of endometrioid carcinoma showed areas positive for TTF1, and the same E545K mutation was found in endometrial tumor.
|
28777147 |
2020 |
|
rs104886003
|
|
Endometrial Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Reviewing of slides of endometrioid carcinoma showed areas positive for TTF1, and the same E545K mutation was found in endometrial tumor.
|
28777147 |
2020 |
|
rs104886003
|
|
Cholangiocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Next-generation sequencing detected mutations at p.Q61H (c.183A>C) of KRAS and p.E545K (c.1633G>A) of PIK3CA, keeping in line with similarity to conventional cholangiocarcinoma.
|
30591492 |
2019 |
|
rs104886003
|
|
Papilloma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We used droplet digital PCR for the mutational analysis of AKT1 (E17K) and PIK3CA (H1047R, E542K, and E545K) in 60 papillomas.
|
29454754 |
2018 |
|
rs104886003
|
|
Papillary thyroid carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report PIK3CA E545K MF measurements in those tissues, as well as in normal breast, normal thyroid, mammary ductal carcinomas, and papillary thyroid carcinomas.
|
28755461 |
2017 |
|
rs104886003
|
|
Malignant neoplasm of ovary
|
|
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 |
|
rs104886003
|
|
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 |
|
rs104886003
|
|
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 |
|
rs104886003
|
|
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 |
|
rs104886003
|
|
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 |
|
rs104886003
|
|
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 |
|
rs104886003
|
|
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 |
|
rs104886003
|
|
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 |
|
rs104886003
|
|
Secondary malignant neoplasm of liver
|
|
0.010 |
GeneticVariation
|
BEFREE |
As a proof of the concept, we present the case of a metastatic patient with a PIK3CA wild-type primary tumor in which the PIK3CA E545K mutation was identified in both the circulating-free DNA obtained from a peripheral blood sample and in the formalin-fixed, paraffin-embedded liver metastasis.
|
26001593 |
2015 |
|
rs104886003
|
|
Squamous cell carcinoma of esophagus
|
|
0.010 |
GeneticVariation
|
BEFREE |
Moreover, PIK3CA hotspot mutations (c.1624G>A [p.Glu542Lys] and c.1633G>A [p.Glu545Lys]) were enriched in APOBEC-signature tumors, and no smoking-associated signature was observed in ESCC.
|
25839328 |
2015 |
|
rs104886003
|
|
Squamous cell carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Analysis of 675 tumors revealed activation of PIK3CA and other PI3K/AKT pathway genes in 31% of squamous carcinomas and 24% of adeno- and adenosquamous tumors, predominantly at two sites (E542K, E545K) in the helical domain of the PIK3CA gene.
|
26080840 |
2015 |
|
rs104886003
|
|
Biliary Tract Cancer
|
|
0.010 |
GeneticVariation
|
BEFREE |
Only one (BTC 29T) sample (n = 38) was positive for PIK3CA p.E542K and another (BTC 27T) for p.H1047R mutation; none was positive for PIK3CA p.E545K.
|
26498688 |
2015 |
|
rs104886003
|
|
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 |
|
rs104886003
|
|
Salivary duct carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
PIK3CA p.E545K mutation was identified in 3 de novo SDCs with conventional morphology.
|
23851329 |
2013 |
|
rs104886003
|
|
Malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
Finally, RNA profiling of lung epithelial cells (BEAS-2B) expressing a mutant allele of PIK3 (E545K) identified a network of transcription factors such as MYC, FOS and HMGA1, not previously recognised to be associated with aberrant PI3K signalling in lung cancer.
|
22363436 |
2012 |
|
rs104886003
|
|
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 |
|
rs104886003
|
|
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 |
|
rs104886003
|
|
Carcinoma of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
Finally, RNA profiling of lung epithelial cells (BEAS-2B) expressing a mutant allele of PIK3 (E545K) identified a network of transcription factors such as MYC, FOS and HMGA1, not previously recognised to be associated with aberrant PI3K signalling in lung cancer.
|
22363436 |
2012 |
|
rs104886003
|
|
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 |
|
rs104886003
|
|
Primary malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
Finally, RNA profiling of lung epithelial cells (BEAS-2B) expressing a mutant allele of PIK3 (E545K) identified a network of transcription factors such as MYC, FOS and HMGA1, not previously recognised to be associated with aberrant PI3K signalling in lung cancer.
|
22363436 |
2012 |