|
Meningioma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Mutations in <i>NF2, TRAF7, SMO, KLF4</i>, and <i>AKT1</i> E17K did not predict RB1 S780 staining or progression in grade 1.5 meningiomas.
|
31615938 |
2020 |
|
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 |
|
Malignant neoplasm of breast
|
|
0.770 |
GeneticVariation
|
BEFREE |
The results obtained in this study suggest that Akti-1/2 might be a better inhibitor for the treatment of BC caused by the E17K mutation in AKT1.
|
31698236 |
2019 |
|
Proteus Syndrome
|
|
0.730 |
GeneticVariation
|
BEFREE |
Proteus syndrome (PS) is an ultra-rare disease characterized by progressive, disproportionate, segmental overgrowth caused by a somatic gain-of-function mutation p.Glu17Lys in the oncogene AKT1.
|
31058421 |
2019 |
|
Neoplasms
|
|
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 |
|
Neoplasms
|
|
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 |
|
Breast Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The results obtained in this study suggest that Akti-1/2 might be a better inhibitor for the treatment of BC caused by the E17K mutation in AKT1.
|
31698236 |
2019 |
|
Colorectal Carcinoma
|
|
0.030 |
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 |
|
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 |
|
Malignant neoplasm of breast
|
|
0.770 |
GeneticVariation
|
BEFREE |
AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients.
|
29086897 |
2018 |
|
Breast Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients.
|
29086897 |
2018 |
|
Solid Neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
Here, we selectively disrupt the ability of rapidly proliferating cancer cells to spawn AKT1<sup>low</sup> daughter cells that are rare, slowly proliferating, tumor-initiating, and chemotherapy-resistant, using β1-integrin activation and the AKT1-E17K-mutant oncoprotein as experimental tools <i>in vivo</i> Surprisingly, we find that selective depletion of AKT1<sup>low</sup> slow proliferators actually reduces the growth of a molecularly diverse panel of human cancer cell xenograft models without globally altering cell proliferation or survival <i>in vivo</i> Moreover, we find that unusual cancer patients with AKT1-E17K-mutant solid tumors also fail to produce AKT1<sup>low</sup> quiescent cancer cells and that this correlates with significantly prolonged survival after adjuvant treatment compared with other patients.
|
29054988 |
2018 |
|
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 |
|
Neoplasms
|
|
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 |
|
Neoplasms
|
|
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 |
|
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Conclusion This study provides the first clinical data that AKT1 E17K is a therapeutic target in human cancer.
|
28489509 |
2017 |
|
Solid Neoplasm
|
|
0.030 |
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 |
|
Primary malignant neoplasm
|
|
0.030 |
GeneticVariation
|
BEFREE |
Conclusion This study provides the first clinical data that AKT1 E17K is a therapeutic target in human cancer.
|
28489509 |
2017 |
|
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 |