|
Sialadenoma papilliferum
|
|
0.010 |
GeneticVariation
|
BEFREE |
BRAF V600E and AKT1 E17K in SP and IPMN) would be useful for the correct diagnosis of minor salivary gland papillary-cystic tumours.
|
31505033 |
2020 |
|
Pancreatic Intraductal Papillary Mucinous Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
BRAF V600E and AKT1 E17K in SP and IPMN) would be useful for the correct diagnosis of minor salivary gland papillary-cystic tumours.
|
31505033 |
2020 |
|
Recurrent tumor
|
|
0.010 |
GeneticVariation
|
BEFREE |
One patient harbored an AKT1 E17K mutation in the recurrent tumor, whereas PIK3CA E542K and E88Q mutations were detected in the primary and untreated metastatic tumor samples.
|
30898102 |
2019 |
|
PIK3CA related overgrowth spectrum
|
|
0.010 |
GeneticVariation
|
BEFREE |
PS is caused by a single somatic activating AKT1 c.49G > A p.E17K variant while PROS can be caused one of multiple variants in PIK3CA.
|
31490637 |
2019 |
|
Non-Small Cell Lung Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Both maintained T-cell responses in peripheral blood to oncogenic driver mutations - BRAF-N581I in the NSCLC and AKT1-E17K in the CRC - years after treatment initiation.
|
30744692 |
2019 |
|
Papilloma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We used droplet digital PCR for the mutational analysis of AKT1 (E17K) and PIK3CA (H1047R, E542K, and E545K) in 60 papillomas.
|
29454754 |
2018 |
|
Glandular papilloma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Molecular analysis further revealed the presence of BRAF V600E and AKT1 E17K mutations in GP, whereas only AKT1 mutation was detected in SP.
|
29696743 |
2018 |
|
Oestrogen receptor positive 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 |
|
Hypoglycemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.Glu17Lys mutation of AKT2 confers low-level constitutive activity upon the kinase and produces hypoglycemia with suppressed fatty acid release from adipose tissue, but not fatty liver, hypertriglyceridemia, or elevated hepatic de novo lipogenesis.Hypoglycemia may spontaneously remit.
|
28541532 |
2017 |
|
Sinonasal undifferentiated carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
AKT1 E17K and KIT D816V hotspot variants were each detected in one IDH2-mutated SNUC.
|
28493366 |
2017 |
|
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 |
|
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 |
|
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 |
|
Mammary Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Available paired tissue samples from breast tumors known to harbor mutations underwent massARRAY genotyping (n = 70) to identify PIK3CA and AKT1(E17K) mutations.
|
21617917 |
2011 |
|
Malignant neoplasm of urinary bladder
|
|
0.010 |
GeneticVariation
|
BEFREE |
The AKT1 G49A (E17K) mutation was found in 2/44 (4.8%) bladder cancer cell lines and 5/184 (2.7%) bladder tumours.
|
19802009 |
2010 |
|
Precursor B-cell lymphoblastic leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Oncogenic E17K mutation in the pleckstrin homology domain of AKT1 promotes v-Abl-mediated pre-B-cell transformation and survival of Pim-deficient cells.
|
20440266 |
2010 |
|
Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Likewise, 3 of 78 (3.8%) invasive carcinomas showed an AKT1 E17K mutation, and this mutation was identified in matching in situ carcinoma in both informative cases.
|
19418217 |
2010 |
|
Carcinoma of bladder
|
|
0.010 |
GeneticVariation
|
BEFREE |
The AKT1 G49A (E17K) mutation was found in 2/44 (4.8%) bladder cancer cell lines and 5/184 (2.7%) bladder tumours.
|
19802009 |
2010 |
|
Malignant neoplasm of prostate
|
|
0.010 |
GeneticVariation
|
BEFREE |
The E17K substitution in AKT1 is rare in prostate cancer.
|
20407443 |
2010 |
|
Bladder Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
The AKT1 G49A (E17K) mutation was found in 2/44 (4.8%) bladder cancer cell lines and 5/184 (2.7%) bladder tumours.
|
19802009 |
2010 |
|
Prostate carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The E17K substitution in AKT1 is rare in prostate cancer.
|
20407443 |
2010 |