rs121434592, AKT1

N. diseases: 54
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.770 GeneticVariation UNIPROT
leukemia
CUI: C0023418
Disease: leukemia
0.050 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
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
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.020 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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE The activity of the endogenous kinase carrying the E17K mutation immunoprecipitated by tumour tissue was significantly higher compared with the wild-type kinase immunoprecipitated by the adjacent normal tissue as determined both by in vitro kinase assay using a consensus peptide as substrate and by in vivo analysis of the phosphorylation status of AKT1 itself (pT308, pS473) or of known downstream substrates such as GSK3 (pS9/S22) and p27 (T198). 18256540 2008
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.030 GeneticVariation BEFREE Our data provide evidence that, although AKT1 mutations are apparently rare in lung cancer (1.9%), the oncogenic properties of E17K-AKT1 may contribute to the development of a fraction of lung carcinoma with squamous histotype (5.5%). 18256540 2008
Adenocarcinoma
CUI: C0001418
Disease: 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
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Our data provide evidence that, although AKT1 mutations are apparently rare in lung cancer (1.9%), the oncogenic properties of E17K-AKT1 may contribute to the development of a fraction of lung carcinoma with squamous histotype (5.5%). 18256540 2008
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.010 GeneticVariation BEFREE Our data provide evidence that, although AKT1 mutations are apparently rare in lung cancer (1.9%), the oncogenic properties of E17K-AKT1 may contribute to the development of a fraction of lung carcinoma with squamous histotype (5.5%). 18256540 2008
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
0.010 GeneticVariation BEFREE Activating E17K mutation in the gene encoding the protein kinase AKT1 in a subset of squamous cell carcinoma of the lung. 18256540 2008
Malignant neoplasm of breast
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
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 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
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.030 GeneticVariation BEFREE We analysed the presence of the AKT1 E17K mutation in 731 cancer tissues by a single-strand conformation polymorphism assay. 18392055 2008
Acute leukemia
CUI: C0085669
Disease: 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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
leukemia
CUI: C0023418
Disease: leukemia
0.050 GeneticVariation BEFREE The E17K change results in constitutive AKT1 activation and induces leukaemia in mice. 18504432 2008
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
leukemia
CUI: C0023418
Disease: leukemia
0.050 GeneticVariation BEFREE The transforming mutation E17K/AKT1 is not a major event in B-cell-derived lymphoid leukaemias. 18665177 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
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE AKT1 (E17K) mutation in pancreatic cancer. 18783292 2008
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.010 GeneticVariation BEFREE AKT1 (E17K) mutation in pancreatic cancer. 18783292 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.030 GeneticVariation BEFREE Recently, a rare activating mutation of AKT1 (E17K) has been reported in breast, ovarian, and colorectal cancers. 18813315 2008
melanoma
CUI: C0025202
Disease: melanoma
0.010 GeneticVariation BEFREE To determine the prevalence of AKT E17K mutations in melanoma, the most aggressive form of skin cancer, we analysed 137 human melanoma specimens and 65 human melanoma cell lines for the previously described activating mutation of AKT1, and for analogous mutations in AKT2 and AKT3. 18813315 2008