| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | GWASCAT | Five endometrial cancer risk loci identified through genome-wide association analysis. | 27135401 | 2016 |
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|
0.020 | GeneticVariation | BEFREE | We identified the AKT1 E17K mutation in 4% of endometrial carcinomas. | 19853286 | 2010 |
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|
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 |
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|
0.010 | GeneticVariation | BEFREE | Our findings suggest YY1 is a positive regulator of AKT1, mediating the stimulatory effects of rs2494737 increasing endometrial cancer risk. | 27259051 | 2016 |
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|
0.010 | GeneticVariation | BEFREE | SNPs (rs72715985), (rs2494750), and (rs74090038) of Akt1 gene are not associated with endometrial cancer in Iranian subjects. | 26296520 | 2015 |
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|
0.010 | GeneticVariation | BEFREE | SNPs (rs72715985), (rs2494750), and (rs74090038) of Akt1 gene are not associated with endometrial cancer in Iranian subjects. | 26296520 | 2015 |
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|
0.010 | GeneticVariation | BEFREE | SNPs (rs72715985), (rs2494750), and (rs74090038) of Akt1 gene are not associated with endometrial cancer in Iranian subjects. | 26296520 | 2015 |
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|
0.010 | GeneticVariation | BEFREE | In contrast, the AKT1 rs2498801 genotype significantly increased risk of endometrial cancer (adjusted OR, 1.94; 95% CI, 1.02-3.67 in a recessive model). | 22146979 | 2012 |
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|
0.010 | GeneticVariation | BEFREE | These findings show for the first time that elevated expression of p53-R175H mutant may exert gain-of-function activity to activate the EGFR/PI3K/AKT pathway and thus may contribute to the invasive phenotype in endometrial cancer. | 19917135 | 2009 |