rs121434592, AKT1

N. diseases: 54
Disease: Malignant neoplasm of ovary ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE Recently, a somatic mutation in AKT1 (E17K) has been detected in breast, colorectal, lung and ovarian cancers. 18504432 2008
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE An earlier study discovered an oncogenic AKT1 gene mutation (AKT1 E17K) in breast, colorectal and ovarian cancers. 18392055 2008
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gene in human breast, colorectal and ovarian cancers, and demonstrated that it induces leukemia in mice. 17921701 2007