rs121912651, TP53

N. diseases: 53
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.760 GeneticVariation BEFREE Moreover, a cancer-derived ATF3 mutant (R88G) devoid of ubiquitination failed to prevent p53 from MDM2-mediated degradation and thus was unable to activate the tumor suppressor. 31796886 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.760 GeneticVariation BEFREE Expression of the dominant-negative p53 R248W mutant due to TM significantly reduced the transactivation of several established p53 target genes that mediate the tumor-suppressor function, including <i>CDKN1A</i> (p21) and <i>BBC3</i> (PUMA). 29666243 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.760 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.760 GeneticVariation BEFREE Common tumor mutants (R248W, R273C) were compared with the AA-associated mutants N131Y, R249W, and Q104L. 23612969 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.760 GeneticVariation BEFREE The XRCC1 R194W polymorphism was associated with a modest increased risk of TP53 tumor mutations in those who regularly smoked cigarettes (odds ratio, 1.4; 95% confidence interval, 1.02-1.9). 19959686 2009
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.760 GeneticVariation BEFREE In contrast to the endometrioid-type tumor, all 3 mutations in 5 serous-type tumors (R273H, 9-bp deletion in codons 240-243, and R248W) showed dominant-negative capacity and presented in a homozygous state in the tumors, indicating a complete functional inactivation. 11733960 2001
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.760 GeneticVariation BEFREE We show results that indicate that expression of these specific ribosomal protein genes is increased in the presence of the R248W p53 mutant, which provides a mechanism for their overexpression in human tumors. 10566557 1999