|
rs121913279
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
The target of rapamycin inhibitor RAD001 blocks tumor growth induced by the H1047R p110alpha mutant.
|
16432179 |
2006 |
|
rs121913279
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
The incidence of point mutations in PIK3CA, the A3140G substitution in particular, in Singapore breast cancers are among the most frequent reported to date for any gene in breast cancer.
|
16582596 |
2006 |
|
rs121913279
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
The exon 20 A3140G (H1047R) substitution was identified most frequently (22/31, 71%) and showed a significant association with patient age (p = 0.043) and stage of the disease (p = 0.025), but not with ER/PR status or histological grade of the tumor.
|
16582596 |
2006 |
|
rs121913279
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The incidence of point mutations in PIK3CA, the A3140G substitution in particular, in Singapore breast cancers are among the most frequent reported to date for any gene in breast cancer.
|
16582596 |
2006 |
|
rs397517202
|
|
Endometrial Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutational analysis of previously unexamined tumors showed an amino acid change from threonine to alanine (T1025A) in exon 20 in one of 28 endometrial cancer samples and 6 endometrial cell lines.
|
16764926 |
2007 |
|
rs397517202
|
|
Malignant neoplasm of endometrium
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutational analysis of previously unexamined tumors showed an amino acid change from threonine to alanine (T1025A) in exon 20 in one of 28 endometrial cancer samples and 6 endometrial cell lines.
|
16764926 |
2007 |
|
rs1260908401
|
|
FCD IIB
|
|
0.010 |
GeneticVariation
|
BEFREE |
We observed a somatic mutation in an FCD(IIb), i.e., amino-acid exchange at nucleotide position 834 (PTEN cDNA, GenBank AH007803.1) in exon 8 with replacement of phenylalanine by leucine (F278L).
|
17013611 |
2006 |
|
rs121913274
|
|
NEVUS, EPIDERMAL (disorder)
|
|
0.710 |
GeneticVariation
|
BEFREE |
Nine of 33 (27%) EN harbored PIK3CA mutations; all cases showed the E545G substitution, which is uncommon in cancers.
|
17673550 |
2007 |
|
rs121913273
|
|
Seborrheic keratosis
|
|
0.710 |
GeneticVariation
|
BEFREE |
By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R.
|
17673550 |
2007 |
|
rs1057519925
|
|
Malignant neoplasm of pharynx
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using both direct genomic DNA sequencing and novel mutant-enriched sequencing methods developed specifically for the 3 hot-spot mutations (H1047R, E545K and E452K) of PIK3CA, we detected 5 mutations of PIK3CA in the 24 pharyngeal cancers (20.8%).
|
17990317 |
2008 |
|
rs121913279
|
|
Liver carcinoma
|
|
0.730 |
GeneticVariation
|
BEFREE |
PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%).
|
18181165 |
2008 |
|
rs104886003
|
|
Liver carcinoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%).
|
18181165 |
2008 |
|
rs121913273
|
|
Liver carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%).
|
18181165 |
2008 |
|
rs104886003
|
|
Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%).
|
18181165 |
2008 |
|
rs121913273
|
|
Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%).
|
18181165 |
2008 |
|
rs104886003
|
|
Congenital contractural arachnodactyly
|
|
0.010 |
GeneticVariation
|
BEFREE |
PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%).
|
18181165 |
2008 |
|
rs104886003
|
|
Esophageal carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
PI3K inhibitor (LY294002) inhibited the growth of an esophageal cancer cell line with a PIK3CA mutation (E545K) in vitro.
|
18262558 |
2008 |
|
rs104886003
|
|
Esophageal Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
PI3K inhibitor (LY294002) inhibited the growth of an esophageal cancer cell line with a PIK3CA mutation (E545K) in vitro.
|
18262558 |
2008 |
|
rs104886003
|
|
Malignant neoplasm of esophagus
|
|
0.010 |
GeneticVariation
|
BEFREE |
PI3K inhibitor (LY294002) inhibited the growth of an esophageal cancer cell line with a PIK3CA mutation (E545K) in vitro.
|
18262558 |
2008 |
|
rs121913279
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
In trastuzumab-resistant BT474 H1047R breast cancer xenografts, NVP-BEZ235 inhibited PI3K signaling and had potent antitumor activity.
|
18829560 |
2008 |
|
rs121913279
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
In trastuzumab-resistant BT474 H1047R breast cancer xenografts, NVP-BEZ235 inhibited PI3K signaling and had potent antitumor activity.
|
18829560 |
2008 |
|
rs104886003
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
PIK3CA mutations were detected in 25% of tumors and 26% of cell lines with a significant excess of helical domain mutations (E542K and E545K).
|
19789314 |
2009 |
|
rs121913273
|
|
Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
PIK3CA mutations were detected in 25% of tumors and 26% of cell lines with a significant excess of helical domain mutations (E542K and E545K).
|
19789314 |
2009 |
|
rs121913279
|
|
Mammary Neoplasms
|
|
0.740 |
GeneticVariation
|
BEFREE |
In addition, the combined treatment of DSF and LY294002 significantly inhibited the growth of the breast tumor xenograft in nude mice induced by MDA-MB-231 cells expressing mutant PIK3CA-H1047R and PIK3CA-E545K, whereas neither DSF nor LY294002 alone could significantly retard tumor growth.
|
20424113 |
2010 |
|
rs104886003
|
|
Mammary Neoplasms
|
|
0.710 |
GeneticVariation
|
BEFREE |
In addition, the combined treatment of DSF and LY294002 significantly inhibited the growth of the breast tumor xenograft in nude mice induced by MDA-MB-231 cells expressing mutant PIK3CA-H1047R and PIK3CA-E545K, whereas neither DSF nor LY294002 alone could significantly retard tumor growth.
|
20424113 |
2010 |