Malignant neoplasm of breast
|
|
0.770 |
GeneticVariation
|
UNIPROT |
|
|
|
leukemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gene in human breast, colorectal and ovarian cancers, and demonstrated that it induces leukemia in mice.
|
17921701 |
2007 |
Malignant neoplasm of ovary
|
|
0.030 |
GeneticVariation
|
BEFREE |
They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gene in human breast, colorectal and ovarian cancers, and demonstrated that it induces leukemia in mice.
|
17921701 |
2007 |
Childhood Leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gene in human breast, colorectal and ovarian cancers, and demonstrated that it induces leukemia in mice.
|
17921701 |
2007 |
Malignant neoplasm of breast
|
|
0.770 |
GeneticVariation
|
BEFREE |
This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and that it is rare in other common cancers, including colorectal, lung, gastric and hepatocellular carcinomas and acute leukaemias.
|
18392055 |
2008 |
Proteus Syndrome
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Molecular mechanism of an oncogenic mutation that alters membrane targeting: Glu17Lys modifies the PIP lipid specificity of the AKT1 PH domain.
|
18954143 |
2008 |
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The activity of the endogenous kinase carrying the E17K mutation immunoprecipitated by tumour tissue was significantly higher compared with the wild-type kinase immunoprecipitated by the adjacent normal tissue as determined both by in vitro kinase assay using a consensus peptide as substrate and by in vivo analysis of the phosphorylation status of AKT1 itself (pT308, pS473) or of known downstream substrates such as GSK3 (pS9/S22) and p27 (T198).
|
18256540 |
2008 |
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Overall, we detected the four AKT1 E17K</span> mutations in the breast cancers (4/93; 4.3%), but none in other cancers.
|
18392055 |
2008 |
leukemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
The transforming mutation E17K/AKT1 is not a major event in B-cell-derived lymphoid leukaemias.
|
18665177 |
2008 |
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Despite the major role of the AKT/PKB family of proteins in the regulation of many growth and survival mechanisms in the cell, and the increasing evidence suggesting that AKT disruption could play a key role in many human malignancies, no major mutations of AKT genes had been reported, until very recently when Carpten et al reported a novel transforming mutation (E17K) in the pleckstrin homology domain of the AKT1 gene in solid tumours.
|
18665177 |
2008 |
leukemia
|
|
0.050 |
GeneticVariation
|
BEFREE |
The E17K change results in constitutive AKT1 activation and induces leukaemia in mice.
|
18504432 |
2008 |
Carcinogenesis
|
|
0.040 |
GeneticVariation
|
BEFREE |
Overall, the evidence indicates that the molecular mechanism underlying E17K oncogenesis is a broadened target lipid selectivity that allows high-affinity binding to PI(4,5)P(2).
|
18954143 |
2008 |
Malignant neoplasm of ovary
|
|
0.030 |
GeneticVariation
|
BEFREE |
Recently, a somatic mutation in AKT1 (E17K) has been detected in breast, colorectal, lung and ovarian cancers.
|
18504432 |
2008 |
Malignant neoplasm of ovary
|
|
0.030 |
GeneticVariation
|
BEFREE |
An earlier study discovered an oncogenic AKT1 gene mutation (AKT1 E17K) in breast, colorectal and ovarian cancers.
|
18392055 |
2008 |
Colorectal Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Recently, a rare activating mutation of AKT1 (E17K) has been reported in breast, ovarian, and colorectal cancers.
|
18813315 |
2008 |
Malignant neoplasm of lung
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our data provide evidence that, although AKT1 mutations are apparently rare in lung cancer (1.9%), the oncogenic properties of E17K-AKT1 may contribute to the development of a fraction of lung carcinoma with squamous histotype (5.5%).
|
18256540 |
2008 |
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
We analysed the presence of the AKT1 E17K mutation in 731 cancer tissues by a single-strand conformation polymorphism assay.
|
18392055 |
2008 |
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To determine the prevalence of AKT E17K mutations in melanoma, the most aggressive form of skin cancer, we analysed 137 human melanoma specimens and 65 human melanoma cell lines for the previously described activating mutation of AKT1, and for analogous mutations in AKT2 and AKT3.
|
18813315 |
2008 |
Adenocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We detected a missense mutations G-->A transition at nucleotide 49 (that results in the E17K substitution) in two squamous cell carcinoma (2/36) but not in adenocarcinoma (0/53).
|
18256540 |
2008 |
Malignant neoplasm of pancreas
|
|
0.010 |
GeneticVariation
|
BEFREE |
AKT1 (E17K) mutation in pancreatic cancer.
|
18783292 |
2008 |
Squamous cell carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We detected a missense mutations G-->A transition at nucleotide 49 (that results in the E17K substitution) in two squamous cell carcinoma (2/36) but not in adenocarcinoma (0/53).
|
18256540 |
2008 |
Acute leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and that it is rare in other common cancers, including colorectal, lung, gastric and hepatocellular carcinomas and acute leukaemias.
|
18392055 |
2008 |
Primary malignant neoplasm of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our data provide evidence that, although AKT1 mutations are apparently rare in lung cancer (1.9%), the oncogenic properties of E17K-AKT1 may contribute to the development of a fraction of lung carcinoma with squamous histotype (5.5%).
|
18256540 |
2008 |
Liver carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and that it is rare in other common cancers, including colorectal, lung, gastric and hepatocellular carcinomas and acute leukaemias.
|
18392055 |
2008 |
Carcinoma of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our data provide evidence that, although AKT1 mutations are apparently rare in lung cancer (1.9%), the oncogenic properties of E17K-AKT1 may contribute to the development of a fraction of lung carcinoma with squamous histotype (5.5%).
|
18256540 |
2008 |