|
rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Two mutations were identified in the tumor tissue by NGS and sanger sequencing: AKT1 E17K and BRAF (B-Raf proto-oncogene, serine/threonine kinase) V600E.
|
31546071 |
2019 |
|
rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The whole exome sequencing showed that AKT1 E17K mutation was high (26.316%) in tumor tissue, and dynamic monitoring of circulating tumor DNA indicated that AKT1 E17K mutation rate was increasing successively and highly consistent with tumor growth in peripheral blood.
|
31802899 |
2019 |
|
rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To enable prospective screening for the low prevalence AKT1 E17K mutation, we have developed and validated a competitive allele-specific TaqMan® PCR (castPCR™) assay for mutation detection in formalin-fixed paraffin-embedded (FFPE) tumor tissue.
|
28472036 |
2017 |
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rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Results In patients with AKT1 E17K-mutant tumors (n = 52) and a median of five lines of prior therapy, the median PFS was 5.5 months (95% CI, 2.9 to 6.9 months), 6.6 months (95% CI, 1.5 to 8.3 months), and 4.2 months (95% CI, 2.1 to 12.8 months) in patients with estrogen receptor-positive breast, gynecologic, and other solid tumors, respectively.
|
28489509 |
2017 |
|
rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The results showed that activating mutations in either PIK3CA or AKT1 were identified in 20 tumors (67%); 19 tumors had PIK3CA mutations (63%; 13 in exon 20 and 6 in exon 9), and 1 had an AKT1 E17K mutation (3%).
|
27184479 |
2016 |
|
rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Compound 21a also served as a potent inhibitor of the AKT1-E17K mutant protein and inhibited tumor growth in a human xenograft mouse model of endometrial adenocarcinoma.
|
27305487 |
2016 |
|
rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Although AKT1-mutant tumor specimens were often found to harbor concurrent alterations in other driver genes, a subset of specimens harboring AKT1 (E17K) as the only known driver alteration was also identified.
|
27515171 |
2016 |
|
rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The AKT1 (E17K) mutation in the tumor was not detectable in all investigated specimens.
|
26077595 |
2015 |
|
rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The data show that tumors with AKT1(E17K) mutations are rational therapeutic targets for AKT inhibitors, although combinations with other targeted agents may be required where activating oncogenic mutations of other proteins are present in the same tumor.
|
26351323 |
2015 |
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rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Here we report that in immortalized human bronchial epithelial cells (BEAS-2B cells) mutant AKT1-E17K promotes anchorage-dependent and -independent proliferation, increases the ability to migrate, invade as well as to survive and duplicate in stressful conditions, leading to the emergency of cells endowed with the capability to form aggressive tumours at high efficiency.
|
26053093 |
2015 |
|
rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Knockin of the AKT1 E17K hotspot mutation on this PIK3CA wild-type background restored pathway signaling, proliferation, and tumor growth in vivo.
|
23888070 |
2013 |
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rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The AKT1 (E17K) mutation has been reported in some tumour types (breast, colorectal, ovarian and lung cancers), and it is of interest which tumour types other than those possess the E17K mutation.
|
19491896 |
2009 |
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rs121434592
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, a somatic mutation in the AKT1 gene (E17K) was identified in a small proportion of human tumors.
|
19420344 |
2009 |
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rs121434592
|
|
|
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 |
|
rs1057519804
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using an established melanoma mouse model, we evaluated E17K, E40K, and Q79K mutations in AKT1, AKT2, and AKT3 and show that mice harboring tumors expressing AKT1<sup>E17K</sup> had the highest incidence of brain metastasis and lowest mean survival.
|
31138602 |
2019 |
|
rs1380514442
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggested that K20E suppressed the tumor growth in the allograft tumor model and exhibited anti-angiogenic activity in Matrigel plug assay.
|
25481497 |
2015 |
|
rs764931115
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Transfection of the E40K into myeloma cells resulted in enhanced tumor cell growth and expression of the PH dominant negative AKT resulted in both inhibition of the IL-6-dependent proliferative response and a decrease in S phase distribution.
|
11857082 |
2002 |