Gene: AKT1 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434592
rs121434592
AKT1
0.050 GeneticVariation BEFREE Conclusion This study provides the first clinical data that AKT1 E17K is a therapeutic target in human cancer. 28489509

2017
dbSNP: rs121434592
rs121434592
AKT1
0.050 GeneticVariation BEFREE Recently, a somatic activating mutation in the AKT1 gene (E17K) was identified in several cancer types. 19853286

2010
dbSNP: rs121434592
rs121434592
AKT1
0.050 GeneticVariation BEFREE Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leukemia in mice. 20440266

2010
dbSNP: rs121434592
rs121434592
AKT1
0.050 GeneticVariation BEFREE Overall, we detected the four AKT1 E17K</span> mutations in the breast cancers (4/93; 4.3%), but none in other cancers. 18392055

2008
dbSNP: rs121434592
rs121434592
AKT1
0.050 GeneticVariation BEFREE Despite the major role of the AKT/PKB family of proteins in the regulation of many growth and survival mechanisms in the cell, and the increasing evidence suggesting that AKT disruption could play a key role in many human malignancies, no major mutations of AKT genes had been reported, until very recently when Carpten et al reported a novel transforming mutation (E17K) in the pleckstrin homology domain of the AKT1 gene in solid tumours. 18665177

2008
dbSNP: rs2494752
rs2494752
AKT1
0.030 GeneticVariation BEFREE Furthermore, it was demonstrated that AKT1 rs2494752 GG and C polymorphism was more aggressive than other AKT1 rs2494752 cancer cells. 30127980

2018
dbSNP: rs2494752
rs2494752
AKT1
0.030 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
dbSNP: rs2494752
rs2494752
AKT1
0.030 GeneticVariation BEFREE In addition, AG genotype and GG/AG genotype of rs2494752 was associated with increased risk of cancer. 29259266

2017
dbSNP: rs2498794
rs2498794
AKT1
0.010 GeneticVariation BEFREE These data suggest that the rs2498794 polymorphism of the AKT1 gene is associated with a long smoking duration and may be involved in the predisposition to cancer when the smoking duration is short or the cigarettes per day is rate low. 26137473

2015