rs121434592, AKT1

N. diseases: 54
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.010 GeneticVariation BEFREE The AKT1 G49A (E17K) mutation was found in 2/44 (4.8%) bladder cancer cell lines and 5/184 (2.7%) bladder tumours. 19802009 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE The data suggest that AKT1 (E17K) is the most likely disease driver in certain breast cancer patients. 27515171 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE Both AKT inhibitors caused highly significant growth inhibition of breast cancer explant models with AKT1(E17K) mutation. 26351323 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients. 29086897 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.060 GeneticVariation BEFREE AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. 23888070 2013
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.040 GeneticVariation BEFREE To show the involvement of AKT1(E17K) directly in v-Abl-mediated tumorigenesis, we infected bone marrow cells from mice with bicistronic retroviruses encoding v-Abl and either wild-type or the mutant AKT1. 20440266 2010
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.040 GeneticVariation BEFREE Moreover, SUMOylation loss dramatically reduced Akt1 E17K-mediated cell proliferation, cell migration, and tumorigenesis. 23884910 2013
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.040 GeneticVariation BEFREE Overall, the evidence indicates that the molecular mechanism underlying E17K oncogenesis is a broadened target lipid selectivity that allows high-affinity binding to PI(4,5)P(2). 18954143 2008
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.040 GeneticVariation BEFREE Oncogenic AKT1(E17K) mutation induces mammary hyperplasia but prevents HER2-driven tumorigenesis. 27004402 2016
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.010 GeneticVariation BEFREE Likewise, 3 of 78 (3.8%) invasive carcinomas showed an AKT1 E17K mutation, and this mutation was identified in matching in situ carcinoma in both informative cases. 19418217 2010
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.010 GeneticVariation BEFREE The AKT1 G49A (E17K) mutation was found in 2/44 (4.8%) bladder cancer cell lines and 5/184 (2.7%) bladder tumours. 19802009 2010
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
Carcinoma, Transitional Cell
CUI: C0007138
Disease: Carcinoma, Transitional Cell
0.010 GeneticVariation BEFREE Using chip-based matrix-assisted laser desorption-time-of-flight (MALDI-TOF) mass spectrometer, AKT1 E17K mutation was searched in 26 total RNA samples obtained from 26 patients known to have urothelial carcinoma. 19389506 2009
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.020 GeneticVariation BEFREE Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leukemia in mice. 20440266 2010
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.030 GeneticVariation BEFREE AKT1 E17K in Colorectal Carcinoma Is Associated with BRAF V600E but Not MSI-H Status: A Clinicopathologic Comparison to PIK3CA Helical and Kinase Domain Mutants. 25714871 2015
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.030 GeneticVariation BEFREE Both maintained T-cell responses in peripheral blood to oncogenic driver mutations - BRAF-N581I in the NSCLC and AKT1-E17K in the CRC - years after treatment initiation. 30744692 2019
Endometrial adenocarcinoma
CUI: C1153706
Disease: Endometrial adenocarcinoma
0.010 GeneticVariation BEFREE Compound 21a also served as a potent inhibitor of the AKT1-E17K mutant protein and inhibited tumor growth in a human xenograft mouse model of endometrial adenocarcinoma. 27305487 2016
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.020 GeneticVariation BEFREE We identified the AKT1 E17K mutation in 4% of endometrial carcinomas. 19853286 2010
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.020 GeneticVariation BEFREE We analysed the presence of the AKT1 (E17K) mutation in 89 endometrial cancer tissue specimens and in 12 endometrial cancer cell lines by PCR and direct sequencing. 19491896 2009