|
rs397514644
|
|
COWDEN SYNDROME 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
|
23246288 |
2013 |
|
rs397514644
|
|
COWDEN SYNDROME 6
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs397514645
|
|
COWDEN SYNDROME 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
|
23246288 |
2013 |
|
rs397514645
|
|
COWDEN SYNDROME 6
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121434592
|
|
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 |
|
rs121434592
|
|
Malignant neoplasm of breast
|
|
0.770 |
GeneticVariation
|
BEFREE |
AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients.
|
29086897 |
2018 |
|
rs121434592
|
|
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 |
|
rs121434592
|
|
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 |
|
rs121434592
|
|
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 |
|
rs121434592
|
|
Malignant neoplasm of breast
|
|
0.770 |
GeneticVariation
|
BEFREE |
AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context.
|
23888070 |
2013 |
|
rs121434592
|
|
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 |
|
rs121434592
|
|
Malignant neoplasm of breast
|
|
0.770 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs121434592
|
|
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 |
|
rs121434592
|
|
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 |
|
rs121434592
|
|
Proteus Syndrome
|
|
0.730 |
GeneticVariation
|
BEFREE |
Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis.
|
21793738 |
2011 |
|
rs121434592
|
|
Proteus Syndrome
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis.
|
21793738 |
2011 |
|
rs121434592
|
|
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 |
|
rs1057519804
|
|
melanoma
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
A novel AKT1 mutant amplifies an adaptive melanoma response to BRAF inhibition.
|
24265152 |
2014 |
|
rs2494748
|
|
White Blood Cell Count procedure
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs2494748
|
|
High density lipoprotein measurement
|
T |
0.700 |
GeneticVariation
|
GWASCAT |
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
|
30275531 |
2018 |
|
rs2498796
|
|
Endometrial Carcinoma
|
A |
0.700 |
GeneticVariation
|
GWASCAT |
Five endometrial cancer risk loci identified through genome-wide association analysis.
|
27135401 |
2016 |
|
rs61759760
|
|
Body Height
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs121434592
|
|
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 |
|
rs121434592
|
|
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 |
|
rs121434592
|
|
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 |