|
rs121434592
|
|
Acute leukemia
|
|
0.010 |
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
|
|
Adenocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We detected a missense mutations G-->A transition at nucleotide 49 (that results in the E17K substitution) in two squamous cell carcinoma (2/36) but not in adenocarcinoma (0/53).
|
18256540 |
2008 |
|
rs2494732
|
|
Affective Symptoms
|
|
0.010 |
GeneticVariation
|
BEFREE |
While rs2494732 was associated with the presence of psychosis (group-2, 3 and 4), rs2498804 was associated with affective symptoms (groups-1, 2 and 3).
|
22277669 |
2012 |
|
rs2498786
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The study suggests that AKT1 rs2498786 polymorphism in insulin signaling pathway may be associated with AD risk and different genotypes may affects levels of protein expression.
|
26178916 |
2015 |
|
rs1130233
|
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1130233 polymorphisms with cachexia in PDAC.
|
25238546 |
2014 |
|
rs3730358
|
|
Bipolar Disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
None of the effects reported in earlier studies were statistically significant, including the association between rs3803300 and BD without any psychotic symptoms, rs3803300 and mood-congruent psychosis, rs3803300 and the combined groups, as well as the association between the haplotypes formed by rs3730358 and rs1130214 and risk for BD.
|
31810747 |
2020 |
|
rs1130214
|
|
Bipolar Disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
None of the effects reported in earlier studies were statistically significant, including the association between rs3803300 and BD without any psychotic symptoms, rs3803300 and mood-congruent psychosis, rs3803300 and the combined groups, as well as the association between the haplotypes formed by rs3730358 and rs1130214 and risk for BD.
|
31810747 |
2020 |
|
rs3730358
|
|
Bladder Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
None of the other examined polymorphisms (<i>AKT1</i> rs1130214, <i>AKT1</i> rs3730358, <i>mTOR</i> rs1883965) revealed significant association with BC.
|
29383014 |
2018 |
|
rs2498801
|
|
Bladder Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
The <i>AKT1</i> rs2498801 variant is associated with a decreased risk of BC (OR=0.57, 95 % CI=0.39-0.82, p=0.003, AG vs AA; OR=0.74, 95 % CI=0.56-0.97, p=0.032, G vs A) while, AKT1 rs1130233 polymorphism considerably increased the risk of BC (OR=3.70, 95 % CI=2.52-5.43, p<0.0001, GA vs GG; OR=5.81, 95 % CI=1.53-21.97, p=0.010, AA vs GG; OR=2.71, 95 % CI=1.98-3.70, p<0.0001, A vs G).
|
29383014 |
2018 |
|
rs121434592
|
|
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 |
|
rs1130233
|
|
Bladder Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, our findings suggest that <i>PIK3CA</i> rs6443624, <i>AKT1</i> rs2498801, <i>AKT1</i> rs1130233, as well <i>mTOR</i> rs2295080 polymorphism may be related to bladder cancer development in a sample of Iranian population.
|
29383014 |
2018 |
|
rs1130214
|
|
Bladder Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
None of the other examined polymorphisms (<i>AKT1</i> rs1130214, <i>AKT1</i> rs3730358, <i>mTOR</i> rs1883965) revealed significant association with BC.
|
29383014 |
2018 |
|
rs61759760
|
|
Body Height
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs121434592
|
|
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 |
|
rs121434592
|
|
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 |
|
rs121434592
|
|
Breast Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients.
|
29086897 |
2018 |
|
rs121434592
|
|
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 |
|
rs121434592
|
|
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 |
|
rs121434592
|
|
Breast Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context.
|
23888070 |
2013 |
|
rs3803304
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Despite the small sample size, we found that the intronic variant, AKT1 rs3803304, may act as a predictive biomarker in the risk of developing breast cancer in the high altitude Ecuadorian mestizo population.
|
30065942 |
2018 |
|
rs3730358
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The SNP AKT1 (rs3730358) was suggested to modify the risk of breast cancer.
|
29202330 |
2018 |
|
rs2498789
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified three genetic variants (<i>AKT1</i> rs2494740, <i>AKT1</i> rs2494744, and <i>AKT1</i> rs2498789) and two lifestyle factors [body mass index (BMI) and dietary alcohol intake] as the top five most influential predictors for breast cancer risk.
|
29074537 |
2018 |
|
rs2494752
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Epidemiologic studies suggested that mutations of the PI3K/PTEN/AKT pathway genes are associated with cancer risk, yet no data are available for PTEN rs701848, PIK3CA rs2699887, and AKT1 rs2494752 polymorphism and breast cancer(BC) risk.
|
28423632 |
2017 |
|
rs2494744
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified three genetic variants (<i>AKT1</i> rs2494740, <i>AKT1</i> rs2494744, and <i>AKT1</i> rs2498789) and two lifestyle factors [body mass index (BMI) and dietary alcohol intake] as the top five most influential predictors for breast cancer risk.
|
29074537 |
2018 |
|
rs2494740
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified three genetic variants (<i>AKT1</i> rs2494740, <i>AKT1</i> rs2494744, and <i>AKT1</i> rs2498789) and two lifestyle factors [body mass index (BMI) and dietary alcohol intake] as the top five most influential predictors for breast cancer risk.
|
29074537 |
2018 |