AKT1, AKT serine/threonine kinase 1, 207

N. diseases: 1250; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
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
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.770 GeneticVariation BEFREE AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients. 29086897 2018
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
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
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
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
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
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
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.770 GeneticVariation BEFREE AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. 23888070 2013
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
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
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.770 GeneticVariation UNIPROT
dbSNP: rs2494740
rs2494740
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
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
dbSNP: rs2494744
rs2494744
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
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
dbSNP: rs2498789
rs2498789
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
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
dbSNP: rs3730358
rs3730358
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The SNP AKT1 (rs3730358) was suggested to modify the risk of breast cancer. 29202330 2018
dbSNP: rs3803304
rs3803304
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
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
dbSNP: rs2494752
rs2494752
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast
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