rs121434592, AKT1

N. diseases: 54
Disease: Malignant Neoplasms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant Neoplasms
CUI: C0006826
Disease: 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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.050 GeneticVariation BEFREE Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leukemia in mice. 20440266 2010
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.050 GeneticVariation BEFREE Recently, a somatic activating mutation in the AKT1 gene (E17K) was identified in several cancer types. 19853286 2010
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
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