Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Interestingly, we observed a combinational effect between MDM4 rs4245739 and P53 Arg72Pro variants in attenuating breast cancer risk, highlighting the importance of the P53 tumor suppressor pathway genes during malignant transformation. 23793604

2013

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE This study implies an association of breast cancer risk with the p53 polymorphism Arg72Pro, but not with p73 G4A. 14634508

2003

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Here, we investigated the effect on breast cancer survival of germline variation in these genes in 925 Finnish breast cancer patients and further analyzed five single nucleotide polymorphisms (SNPs) in PRKAG2 (rs1029946, rs4726050, rs6464153, rs7789699) and PPP2R2B (rs10477313) for 10-year survival in breast cancer patients, interaction with TP53 R72P and MDM2-SNP309, outcome after specific adjuvant therapy and correlation to tumor characteristics in 4,701 invasive cases from four data sets. 23034890

2013

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE RAD51 135G>C and TP53 Arg72Pro polymorphisms and susceptibility to breast cancer in Serbian women. 24114315

2014

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE An increase in breast cancer-specific mortality was observed for carriers of the germline MDM2 SNP309 rare GG-genotype (range hazard ratios: 2-3) or TP53 R72P heterozygous GC-genotype (range hazard ratios: 1-2) compared to those having the common genotypes within subgroups of tumors displaying a "more aggressive phenotype" gene expression profile. 21667122

2011

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE The present study was undertaken to investigate the association of p53 Arg72Pro, Ins16bp and G13964C polymorphisms and their haplotypes with breast cancer risk in Tunisian women. 20233677

2010

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Allele distribution of the R72P missense mutation between ethnically diverse Jewish breast cancer cases and average risk controls showed significant differences: among non-Ashkenazi breast cancer cases, 62.5%, 33.3% and 4.2% were homozygous, heterozygous and homozygous for the Arg72, Arg72Pro and the Pro72 polymorphism, respectively, whereas for controls, the distribution was 22.4%, 65.4% and 12.2%, respectively (P=0.00052), and among Ashkenazi breast cancer cases, allele distribution was 68.5%, 29.6% and 1.9%, whereas for controls, the distribution was 50%, 40% and 10%, respectively (P=0.0125). 15756275

2005

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE We pooled data from four breast cancer cohorts within the Breast Cancer Association Consortium for which both TP53 R72P and MDM2 SNP309 were genotyped and follow-up was available (n = 3,749). 20021639

2009

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE The G allele of the TP53 R72P polymorphism and T allele of the MDM2 SNP309 polymorphism were putative high-risk alleles and exhibited a combined gene-dose-dependent joint effect on breast cancer risk that was more clearly observed in postmenopausal women. 21833626

2011

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE This study investigates the role of 3 nonsynonymous SNPs in the DNA repair genes XRCC1 (R399Q), RAD51 (G135C) and TP53 (Arg72Pro) in breast cancer in Serbian women. 26954070

2016

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Different genotypes of the Arg72Pro and PIN3 (+16 bp) polymorphisms had no significant impact on survival in breast cancer patients. 21365326

2012

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Furthermore, we found a significant gene-gene interaction between P53BP1 Gln1136Lys and p53 Arg72Pro variants in relation to breast cancer, and the OR of interaction for the presence of both P53BP1 1136Gln/Lys+Lys/Lys and p53 72Arg/Pro+Pro/Pro genotypes was 1.93 (95% CI 1.06-3.52) (P=0.031 for interaction). 16314399

2006

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE These observations suggested that neither the Ins16bp or Arg72Pro polymorphisms considered separately, nor any related haplotype, were associated with breast cancer risk in BRCA-mutation negative familial cases. 18640791

2008

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE The p53 Arg72Pro and MDM2 -309 polymorphisms and risk of breast cancer in the nurses' health studies. 17387621

2007

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Specifically, two polymorphisms in p53, c.97-147ins16bp and p.Arg72Pro have been analysed as putative breast cancer susceptibility variants, and it has been recently reported that a p53 haplotype combining the absence of the 16-bp insertion and the presence of proline at codon 72 (No Ins-72Pro) was associated with an earlier age at the onset of the first primary tumour in BRCA2 mutation carriers in the Spanish population. 18781154

2008

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE A total of 5 tagging single-nucleotide polymorphisms (rs2299941 of PTEN, rs2735385, rs6999227, rs1805812, and rs1061302 of Nijmegen breakage syndrome 1) were tightly associated with breast cancer risk in sporadic cases, and 5 other tagging single-nucleotide polymorphisms (rs1042522 of TP53, rs2735343 of PTEN, rs7220719, rs16945628, and rs11871753 of BRCA1-interacting protein 1) were tightly associated with breast cancer risk in familial and early-onset cases. 30799775

2018

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci. 15138483

2004

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE TGFbeta1 (Leu10Pro), p53 (Arg72Pro) can predict for increased risk for breast cancer in south Indian women and TGFbeta1 Pro (Leu10Pro) allele predicts response to neo-adjuvant chemo-radiotherapy. 18058229

2008

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE In this study, we investigated whether MDM2-SNP309 is associated with p53 R72P genetic polymorphism for the risk of breast cancer development in Asian Taiwanese, which has not been well-studied in this regard. 21479369

2011

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE The findings of our case-control study and meta-analysis suggest a significant association between p53 Arg72Pro polymorphism and an increased risk of breast cancer in Indian population. 30065615

2018

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE These results suggest no effect of either R72P allele on breast cancer risk but a significantly reduced survival for 72P homozygous breast cancer patients. 16033823

2005

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE However, the results obtained from the combination of SNPs 344T>A of MDM2 and 72 Arg/Pro of p53, do not support the hypothesis of the prominent role of common p53 and MDM2 variations in the genetic mechanisms of chemotherapy resistance in breast cancer. 27569097

2016

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Epistatic interaction of Arg72Pro TP53 and -710 C/T VEGFR1 polymorphisms in breast cancer: predisposition and survival. 23716179

2013

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE A significant association was found between TP53Arg72Pro (rs1042522) and CDH1 -160 C/A (rs16260) polymorphisms and breast cancer risk. 26666818

2016