Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.070 | GeneticVariation | BEFREE | We assessed the distribution of TP53 Pro72Arg polymorphism in one hundred and fifteen and eighty two SCCOT and ESCC patients, respectively, with respect to one hundred and ten healthy controls from the same population. | 25436609 | 2014 |
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0.070 | GeneticVariation | BEFREE | These results suggest that the Pro variant of TP53 Arg72Pro is an important genetic hallmark contributing to ESCC</span> risk. | 20389250 | 2010 |
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0.070 | GeneticVariation | BEFREE | Restriction fragment length polymorphism-polymerase chain reaction was used to detect the genotype distribution of TP53 Pro72Arg pol</span>ymorphism in 100 patients with ESCC and 50 healthy controls from the same population. | 28789369 | 2017 |
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0.070 | GeneticVariation | BEFREE | Our previous study demonstrated that p53 Arg72Pro polymorphism was associated with the risk of human papillomavirus (HPV)-related ESCC. | 25153662 | 2014 |
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0.070 | GeneticVariation | BEFREE | Epidemiological studies in endemic geographic regions for esophageal squamous cell carcinoma (ESCC) suggested a number of risk factors, including modifications of the p53 tumor suppressor by codon Arg72Pro polymorphism, loss of heterozygosity (LOH) or human papillomavirus type 16 or 18 (HPV 16/18) infection. | 17390072 | 2007 |
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0.070 | GeneticVariation | BEFREE | Here we showed that the risk of ESCC was elevated in subjects with any of the variant genot</span>ypes of PTEN rs2735343 and P53 Arg</span>72Pro polymorphisms, but not any genotype of MDM2 or PTEN rs701848. | 22336889 | 2012 |
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0.070 | GeneticVariation | BEFREE | Differences in R72P and N372H were most likely a reflection of lack of Hardy-Weinberg equilibrium (HWE), however, the difference in 203G>A was due to low prevalence of GG in ESCC patients (0.22 versus 0.36 in high risk group (P=0.047), and 0.22 versus 0.40 in low risk group (P=0.010)), consistent with a disease association. | 12670525 | 2003 |