|
Hidradenoma Papilliferum
|
|
0.010 |
GeneticVariation
|
BEFREE |
Direct sequencing revealed the presence of somatic <i>PIK3CA</i> mutations (Ex9. c.1633G>A, p.E545K and Ex20. c.3140A>G, p.H1047R) in two of the HPs and an <i>AKT1</i> (c.49G>A, p.E17K) mutation in one.
|
27742746 |
2017 |
|
estrogen receptor-negative breast cancer
|
|
0.010 |
GeneticVariation
|
BEFREE |
Both assays are employed at centralized testing laboratories operating according to quality standards for prospective identification of the AKT1 E17K mutation in ER+ breast cancer patients in the context of a clinical trial evaluating the AKT inhibitor AZD5363 in combination with endocrine (fulvestrant) therapy.
|
28472036 |
2017 |
|
Malignant neoplasm of breast
|
|
0.770 |
GeneticVariation
|
BEFREE |
Analysis of TCGA breast cancer data revealed that the mRNA expression, total protein levels, and phosphorylation of various RTKs are decreased in human tumors harboring AKT1(E17K).
|
27004402 |
2016 |
|
Malignant neoplasm of breast
|
|
0.770 |
GeneticVariation
|
BEFREE |
The data suggest that AKT1 (E17K) is the most likely disease driver in certain breast cancer patients.
|
27515171 |
2016 |
|
Neoplasms
|
|
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 |
|
Neoplasms
|
|
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 |
|
Neoplasms
|
|
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 |
|
Breast Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The data suggest that AKT1 (E17K) is the most likely disease driver in certain breast cancer patients.
|
27515171 |
2016 |
|
Breast Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
Analysis of TCGA breast cancer data revealed that the mRNA expression, total protein levels, and phosphorylation of various RTKs are decreased in human tumors harboring AKT1(E17K).
|
27004402 |
2016 |
|
Carcinogenesis
|
|
0.040 |
GeneticVariation
|
BEFREE |
Oncogenic AKT1(E17K) mutation induces mammary hyperplasia but prevents HER2-driven tumorigenesis.
|
27004402 |
2016 |
|
Endometrial adenocarcinoma
|
|
0.010 |
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 |
|
Pulmonary Sclerosing Hemangioma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We used a second subset of 24 PSHs to confirm the high frequency of AKT1 mutations (overall 31/68, 45.6%; p.E17K, 33.8%) and recurrent β-catenin mutations (overall 3 of 68, 4.4%).
|
27601661 |
2016 |
|
Neoplasm Metastasis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In two cohorts of patients with advanced metastatic disease, 98.0 % (n = 50) and 97.1 % (n = 35) concordance was obtained between tissue and blood samples for the AKT1 (E17K) mutation, and mutation capture rates of 66.7 % (2/3) and 85.7 % (6/7) in blood versus tissue samples were observed.
|
27515171 |
2016 |
|
Malignant neoplasm of breast
|
|
0.770 |
GeneticVariation
|
BEFREE |
Both AKT inhibitors caused highly significant growth inhibition of breast cancer explant models with AKT1(E17K) mutation.
|
26351323 |
2015 |
|
Proteus Syndrome
|
|
0.730 |
GeneticVariation
|
BEFREE |
A somatic activating mutation in AKT1, c.49G>A, pGlu17Lys, that results in elevated AKT signaling in mutation-positive cells, is responsible for the mosaic overgrowth condition, Proteus syndrome.
|
26657992 |
2015 |
|
Neoplasms
|
|
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 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The AKT1 (E17K) mutation in the tumor was not detectable in all investigated specimens.
|
26077595 |
2015 |
|
Neoplasms
|
|
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 |
|
Breast Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
Both AKT inhibitors caused highly significant growth inhibition of breast cancer explant models with AKT1(E17K) mutation.
|
26351323 |
2015 |
|
Colorectal Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
AKT1 E17K in Colorectal Carcinoma Is Associated with BRAF V600E but Not MSI-H Status: A Clinicopathologic Comparison to PIK3CA Helical and Kinase Domain Mutants.
|
25714871 |
2015 |
|
Solid Neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
AKT1(E17K) mutations occur at low frequency in a variety of solid tumors, including those of the breast and urinary bladder.
|
26351323 |
2015 |
|
Malignant neoplasm of lung
|
|
0.030 |
GeneticVariation
|
BEFREE |
The hotspot E17K mutation in the pleckstrin homology domain of AKT1 occurs in approximately 0.6-2% of human lung cancers.
|
26053093 |
2015 |
|
Malformations of Cortical Development
|
|
0.010 |
GeneticVariation
|
BEFREE |
Within human FMCD-affected brain, we found that cells showing activation of the PI3K-AKT-mTOR pathway were enriched for the AKT3(E17K) mutation.
|
26523971 |
2015 |
|
Immunologic Deficiency Syndromes
|
|
0.010 |
GeneticVariation
|
BEFREE |
Expression of exogenous copies of AKT1(E17K) in MCF10A breast epithelial cells increased phosphorylation of AKT and its substrates, induced colony formation in soft agar, and formation of lesions in the mammary fat pad of immunodeficient mice.
|
26351323 |
2015 |
|
Malignant neoplasm of breast
|
|
0.770 |
GeneticVariation
|
BEFREE |
AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context.
|
23888070 |
2013 |