Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912660
rs121912660
0.010 GeneticVariation BEFREE The K120R mutation renders the p53 protein disabled for acetylation and, as a result, defective for apoptotic function, which provides a mechanistic link between the missense mutation and tumorigenesis. 30348990

2019

dbSNP: rs764803020
rs764803020
0.010 GeneticVariation BEFREE The K120R mutation renders the p53 protein disabled for acetylation and, as a result, defective for apoptotic function, which provides a mechanistic link between the missense mutation and tumorigenesis. 30348990

2019

dbSNP: rs781490101
rs781490101
0.010 GeneticVariation BEFREE The K120R mutation renders the p53 protein disabled for acetylation and, as a result, defective for apoptotic function, which provides a mechanistic link between the missense mutation and tumorigenesis. 30348990

2019

dbSNP: rs28934575
rs28934575
0.010 GeneticVariation BEFREE These results indicate that mutant TP53 G245C and R273H can lead to more aggressive phenotypes and enhance cancer cell malignancy, which further uncover TP53 function in carcinogenesis and might be useful in clinical diagnosis and therapy of TP53 mutant cancers. 30126368

2018

dbSNP: rs573154688
rs573154688
0.010 GeneticVariation BEFREE <i>De novo</i> tumorigenesis was not significantly increased in either heterozygous (<i>p53<sup>334R/H</sup></i> ) or homozygous (<i>p53<sup>334H/H</sup></i> ) p53 R334H knockin mice compared with wild-type mice. 30042151

2018

dbSNP: rs771939956
rs771939956
0.010 GeneticVariation BEFREE <i>De novo</i> tumorigenesis was not significantly increased in either heterozygous (<i>p53<sup>334R/H</sup></i> ) or homozygous (<i>p53<sup>334H/H</sup></i> ) p53 R334H knockin mice compared with wild-type mice. 30042151

2018

dbSNP: rs779196500
rs779196500
0.010 GeneticVariation BEFREE In addition, we found that the L104P mutation in the VCX gene (Variable charge, X-linked) was absent in white blood cell samples, but present at 11.1% frequency in the adjacent tissues and increased to 14.6% in HCC tissues, suggesting that this mutation might be a tumor driver gene driving HCC carcinogenesis. 28412734

2017

dbSNP: rs942158624
rs942158624
0.010 GeneticVariation BEFREE When the role of SCF<sup>Skp2/Cks1</sup>-mediated p27 ubiquitination in cancer was specifically tested by p27 Thr187-to-Ala knockin (p27T187A KI), it was found dispensable for Kras<sup>G12D</sup>-induced lung tumorigenesis but essential for Rb1-deficient pituitary tumorigenesis. 27181203

2017

dbSNP: rs1131691021
rs1131691021
0.010 GeneticVariation BEFREE Co-expression of Nm23H1 but not H2 in NIH3T3 cells effectively suppressed neoplastic transformation and tumorigenesis induced by the oncogenic H-Ras G12V mutant. 25748386

2015

dbSNP: rs863224682
rs863224682
0.010 GeneticVariation BEFREE The above results suggest that an FGFR3 p.R248H mutation is involved in the carcinogenesis of a subset of LCs and may contribute to the elucidation of the characteristics of FGFR3 mutation-positive LCs in the future. 24452392

2014

dbSNP: rs879253942
rs879253942
0.010 GeneticVariation BEFREE The role of folic acid in carcinogenesis may be modulated by polymorphism C677T in MTHFR and tandem repeats 2R/3R in the promoter site of TYMS gene that are related to decreased enzymatic activity and quantity and availability of the enzyme, respectively. 25341694

2014

dbSNP: rs730882025
rs730882025
0.010 GeneticVariation BEFREE These results suggest that the natural variants, E6 D25E and L83V, similar to the prototype E6 protein, contribute to tumorigenesis by degrading p53. 23404471

2013

dbSNP: rs863224683
rs863224683
0.010 GeneticVariation BEFREE These results suggest that the natural variants, E6 D25E and L83V, similar to the prototype E6 protein, contribute to tumorigenesis by degrading p53. 23404471

2013

dbSNP: rs1057519747
rs1057519747
0.010 GeneticVariation BEFREE Mice with a germ line p53 mutation (p53(Ala135Val/wt)) display increased susceptibility to lung, skin, and colon carcinogenesis. 18234966

2008

dbSNP: rs121912665
rs121912665
0.010 GeneticVariation BEFREE Mice with a germ line p53 mutation (p53(Ala135Val/wt)) display increased susceptibility to lung, skin, and colon carcinogenesis. 18234966

2008

dbSNP: rs121912651
rs121912651
0.010 GeneticVariation BEFREE Several lines of evidence further indicate gain-of-function of p53 mutants in promoting tumorigenesis. p53(R248W) mice rapidly succumb to certain types of cancers not commonly observed in p53(-/-) mice. 17417627

2007

dbSNP: rs11540652
rs11540652
0.020 GeneticVariation BEFREE This study investigated regulators of mutant TP53 (R248Q) in basal-like TNBC and their impact on tumorigenesis. 30349649

2018

dbSNP: rs11540652
rs11540652
0.020 GeneticVariation BEFREE P53 mutation plays a pivotal role in tumorigenesis of endometrial cancer (EC), here we report that the gain-of-function mutant p53-R248Q targets the proteasome activator REGγ to promote EC progression. 25697482

2015

dbSNP: rs28934576
rs28934576
0.040 GeneticVariation BEFREE These results indicate that mutant TP53 G245C and R273H can lead to more aggressive phenotypes and enhance cancer cell malignancy, which further uncover TP53 function in carcinogenesis and might be useful in clinical diagnosis and therapy of TP53 mutant cancers. 30126368

2018

dbSNP: rs28934576
rs28934576
0.040 GeneticVariation BEFREE In the current study, the combined loss of PAX2 and expression of the R273H p53 mutant protein in murine oviductal epithelial (MOE) cells enhanced proliferation and growth in soft agar in vitro but was insufficient to drive tumorigenesis in vivo. 27991925

2017

dbSNP: rs762846821
rs762846821
0.040 GeneticVariation BEFREE Co-expression of Nm23H1 but not H2 in NIH3T3 cells effectively suppressed neoplastic transformation and tumorigenesis induced by the oncogenic H-Ras G12V mutant. 25748386

2015

dbSNP: rs762846821
rs762846821
0.040 GeneticVariation BEFREE These results suggest that tsTAg synergistically promotes Kras(G12D) -associated PDAC formation, and our study identifies a new mouse model of PDAC that may allow a better understanding of the mechanism of carcinogenesis in pancreatic carcinoma, which shows a catastrophic clinical course. 25042889

2014

dbSNP: rs762846821
rs762846821
0.040 GeneticVariation BEFREE Kras(G12D); IL-6(-/-) mice exhibited increased tumorigenesis, but slower tumor growth and longer survival, than Kras(G12D) mice. 24260500

2013

dbSNP: rs762846821
rs762846821
0.040 GeneticVariation BEFREE The effect of NO-aspirin on pancreatic carcinogenesis was investigated by assessing the development of precursor pancreatic lesions and adenocarcinomas in Kras(G12D/+) transgenic mice that recapitulate human pancreatic cancer progression. 23019409

2012

dbSNP: rs28934576
rs28934576
0.040 GeneticVariation BEFREE This study has investigated the impact of three specific dominant-negative p53 mutants (F134L, M237L, and R273H) on tumorigenesis by LNCaP prostate cancer cells. 16723121

2006