|
rs778184105
|
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
This combination treatment ultimately leads to the expansion of cancer progenitors with a PTEN E91D mutation, suggesting that the analysis of PTEN mutations could predict therapeutic response to the dual therapy.
|
21138868 |
2010 |
|
rs778184105
|
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
This combination treatment ultimately leads to the expansion of cancer progenitors with a PTEN E91D mutation, suggesting that the analysis of PTEN mutations could predict therapeutic response to the dual therapy.
|
21138868 |
2010 |
|
rs121913279
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
For the first-time we demonstrated a PIK3CA mutation (H1047L) simultaneously occurring with a 15-bp deletion in KIT exon 11 in one tumor.
|
21906875 |
2011 |
|
rs121913279
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a mouse model of breast cancer conditionally expressing human PIK3CA(H1047R).
|
21822287 |
2011 |
|
rs121913279
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
By contrast, we did not found any tumour harbouring H1047R mutation in exon 20.
|
20571907 |
2011 |
|
rs121913279
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
In the present study, we show that the expression of mutant PIK3CA H1047R in the luminal mammary epithelium evokes heterogeneous tumors that express luminal and basal markers and are positive for the estrogen receptor.
|
21482677 |
2011 |
|
rs121913279
|
|
Neoplasms
|
|
0.800 |
GeneticVariation
|
BEFREE |
Notably, most PIK3CA(H1047R)-driven mammary tumors recurred after PIK3CA(H1047R) inactivation.
|
21822287 |
2011 |
|
rs104886003
|
|
Malignant neoplasm of breast
|
|
0.760 |
GeneticVariation
|
BEFREE |
We further validated the approach in breast cancer cells with mutational activation of PIK3CA, where tandem mass spectrometry detected and quantitatively measured the abundance of a helical domain mutant (E545K) of PIK3CA connected to PI3K activation.
|
21775521 |
2011 |
|
rs121913279
|
|
Mammary Neoplasms
|
|
0.740 |
GeneticVariation
|
BEFREE |
Our results suggest that the PIK3CA H1047R oncogene targets a multipotent progenitor cell and, furthermore, show that this model recapitulates features of human breast tumors with PIK3CA H1047R.
|
21482677 |
2011 |
|
rs121913279
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a mouse model of breast cancer conditionally expressing human PIK3CA(H1047R).
|
21822287 |
2011 |
|
rs104886003
|
|
Breast Carcinoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
We further validated the approach in breast cancer cells with mutational activation of PIK3CA, where tandem mass spectrometry detected and quantitatively measured the abundance of a helical domain mutant (E545K) of PIK3CA connected to PI3K activation.
|
21775521 |
2011 |
|
rs121913279
|
|
Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Somatic mutations of the PIK3CA gene were detected in 10/23 (43%) carcinomas and in all cases the type of mutation was H1047R in the kinase domain.
|
21735444 |
2011 |
|
rs4855094
|
|
Gastroesophageal reflux disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Four SNPs (PERP rs648802; PIK3CA rs4855094, rs7644468 and TNFRSF1A rs4149579) had significant interaction with gastroesophageal reflux disease (GERD).
|
21212151 |
2011 |
|
rs2677764
|
|
Endometrial Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The rs2677764 tagSNP in PIK3CA was statistically significantly associated with endometrial cancer in PECS (OR=1.42, 95% CI, 1.03-1.95; P=0.03) but not SEARCH (OR=0.98, 95% CI=0.82-1.17).
|
21093899 |
2011 |
|
rs2677764
|
|
Malignant neoplasm of endometrium
|
|
0.010 |
GeneticVariation
|
BEFREE |
The rs2677764 tagSNP in PIK3CA was statistically significantly associated with endometrial cancer in PECS (OR=1.42, 95% CI, 1.03-1.95; P=0.03) but not SEARCH (OR=0.98, 95% CI=0.82-1.17).
|
21093899 |
2011 |
|
rs121913274
|
|
Follicular thyroid carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In addition, an activating mutation (E545A) in the PKI3CA oncogene was found in the FTC.
|
22136270 |
2011 |
|
rs121913279
|
|
Malignant neoplasm of breast
|
|
0.800 |
GeneticVariation
|
BEFREE |
Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1047R exon 20 mutant of PIK3CA in luminal mammary epithelial cells induces tumorigenesis, implying that PIK3CA mutation is an early event in breast cancer.
|
22315990 |
2012 |
|
rs121913279
|
|
Liver carcinoma
|
|
0.730 |
GeneticVariation
|
BEFREE |
Moreover, by analyzing primary HCC tissue samples we were able to demonstrate that a hotspot mutation (H1047R) of PI3KCA, the gene encoding the catalytic subunit of PI3K, was associated with increased in vitro kinase activity of all AKT isoforms in comparison to healthy liver tissue of the patient.
|
23167739 |
2012 |
|
rs121913279
|
|
Breast Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1047R exon 20 mutant of PIK3CA in luminal mammary epithelial cells induces tumorigenesis, implying that PIK3CA mutation is an early event in breast cancer.
|
22315990 |
2012 |
|
rs121913279
|
|
Malignant Neoplasms
|
|
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 |
|
rs121913279
|
|
Malignant Neoplasms
|
|
0.090 |
GeneticVariation
|
BEFREE |
One EBV-positive cancer with PIK3CA mutation (H1047R) was MSI-positive.
|
23236232 |
2012 |
|
rs121913279
|
|
Primary malignant neoplasm
|
|
0.080 |
GeneticVariation
|
BEFREE |
One EBV-positive cancer with PIK3CA mutation (H1047R) was MSI-positive.
|
23236232 |
2012 |
|
rs121913279
|
|
Primary malignant neoplasm
|
|
0.080 |
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 |
|
rs121913279
|
|
Carcinogenesis
|
|
0.060 |
GeneticVariation
|
BEFREE |
To better understand the role of mutant PIK3CA in the initiation or progression of tumorigenesis, we generated mice in which a PIK3CA mutation commonly detected in human cancers (the H1047R mutation) could be conditionally knocked into the endogenous Pik3ca locus.
|
22214849 |
2012 |
|
rs121913279
|
|
Carcinogenesis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1047R exon 20 mutant of PIK3CA in luminal mammary epithelial cells induces tumorigenesis, implying that PIK3CA mutation is an early event in breast cancer.
|
22315990 |
2012 |