Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11540654
rs11540654
0.020 GeneticVariation BEFREE We conducted a case-control study to examine whether two polymorphisms (i.e., rs4938723 in the promoter of pri-miR-34b/c and TP53 Arg72Pro) were linked to the carcinogenesis of cervical cancer among Chinese Han women. 26619844

2017

dbSNP: rs759728549
rs759728549
0.020 GeneticVariation BEFREE Kras(G12D); IL-6(-/-) mice exhibited increased tumorigenesis, but slower tumor growth and longer survival, than Kras(G12D) mice. 24260500

2014

dbSNP: rs759728549
rs759728549
0.020 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: rs11540654
rs11540654
0.020 GeneticVariation BEFREE These findings suggest that under at least some conditions, the modulation of apoptosis by the R72P polymorphism does not affect the process of carcinogenesis. 20587514

2010

dbSNP: rs121912664
rs121912664
0.020 GeneticVariation BEFREE However, other tumor types, mainly breast cancer, have been observed in carriers of several unrelated kindreds, raising the possibility that the R337H mutation may also contribute to breast tumorigenesis in a genetic background-specific context. 19046423

2009

dbSNP: rs121912664
rs121912664
0.020 GeneticVariation BEFREE Moreover, loss of heterozygocity with retention of the R337H allele was observed in a breast adenocarcinoma, supporting a role for this mutation in breast tumorigenesis. 16494995

2007

dbSNP: rs765848205
rs765848205
0.010 GeneticVariation BEFREE Evolutionary reconstruction indicates histone 3 (H3) K27M--including H3.2K27M--mutations potentially arise first and are invariably associated with specific, high-fidelity obligate partners throughout the tumour and its spread, from diagnosis to end-stage disease, suggesting mutual need for tumorigenesis. 27048880

2016

dbSNP: rs11540652
rs11540652
0.010 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: rs55832599
rs55832599
0.010 GeneticVariation BEFREE We demonstrate that mot-1, R126W, or P509S mutant (i) lacks mot-2 functions involved in carcinogenesis, such as p53 inactivation and hTERT/hnRNP-K (heterogeneous nuclear ribonucleoprotein K) activation; (ii) causes increased level of endogenous oxidative stress; (iii) results in decreased tolerance of cells to exogenous oxidative stress; and (iv) shows differential binding and impact on the RPL-7 and EF-1α proteins. 25645922

2015

dbSNP: rs866419664
rs866419664
0.010 GeneticVariation BEFREE We demonstrate that mot-1, R126W, or P509S mutant (i) lacks mot-2 functions involved in carcinogenesis, such as p53 inactivation and hTERT/hnRNP-K (heterogeneous nuclear ribonucleoprotein K) activation; (ii) causes increased level of endogenous oxidative stress; (iii) results in decreased tolerance of cells to exogenous oxidative stress; and (iv) shows differential binding and impact on the RPL-7 and EF-1α proteins. 25645922

2015

dbSNP: rs1042522
rs1042522
0.010 GeneticVariation BEFREE Polymorphism of p53 gene codon72 arginine (Arg)/proline (Pro) (rs1042522) may influence the function of p53 protein and then affect the processing of carcinogenesis. 24326769

2014

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: rs28934576
rs28934576
0.010 GeneticVariation BEFREE Heterozygous p53(R270H/+)WAPCre mice (with mammary gland-specific expression of the p53.R270H mutation, equivalent to human R273H, at physiologic levels) develop mammary tumors at high frequency, indicating that the R270H mutation predisposes for mammary gland tumor development and acts in a dominant-negative manner in early stages of tumorigenesis. 16166291

2005