Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Our results suggest that TP53 c.215G>C, p. (Arg72Pro) polymorphism may be considered as a genetic marker for predisposition to BC in Moroccan population. 29949804 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Neither combined nor homozygous/heterozygous MDM-2 SNP309G was associated with total, premenopausal, or postmenopausal breast cancer risk; however, MDM-2 SNP309G, along with p53 Arg72Pro heterozygous variant, showed a significant protective association with premenopausal breast cancer risk (odds ratio [95% confidence interval]: 0.18 [0.02-1.20], p value; 0.041 for homozygous + heterozygous MDM-2 SNP309G). 17719241 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Genetic data revealed that the p53 Arg72Pro genotype was found to be greatly associated with breast cancer risk (p<0.001), as well as tumor site (p=0.046). 25750340 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The results of present study indicated that among the five TP53 polymorphisms investigated, the p.R72P polymorphism, and the RP-A1A1 and RP-GG genotype combination contribute to breast cancer susceptibility in North Indians. 25169539 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The significance of MDM2 SNP309 and p53 Arg72Pro in young women with breast cancer. 19639206 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE RAD51 135G>C and TP53 Arg72Pro polymorphisms and susceptibility to breast cancer in Serbian women. 24114315 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE MDM2 SNP309 and TP53 R72P associated with severe and febrile neutropenia in breast cancer patients treated with 5-FU/epirubicin/cyclophosphamide. 21706156 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE In conclusion, in this large collaborative study, we did not find an association of MDM2 SNP309 and TP53 R72P, separately or in interaction, with breast cancer. 17909070 2007
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The P53 gene codon 72 Arg/Pro and Her2 gene Ile655Val polymorphisms were not associated with the risk of breast cancer in Turkish women. 20380571 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE In the stratified analyses, a significant association between MDM2 SNP309 and breast cancer</span> risk were observed in Asian, but null significant association between TP53 R72P and breast cancer risk were found even in various subgroups. 22729912 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We evaluated whether three well-characterized TP53 variants -- Ex4 + 119 C > G (rs#1042522, Arg72Pro), IVS6 + 62 A > G (rs#1625895), and an IVS3 16 bp insertion/ deletion (INDEL; rs#17878362) -- were associated with breast cancer risk in a population-based case-control study. 17624591 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The p53 Arg72Pro and MDM2 -309 polymorphisms and risk of breast cancer in the nurses' health studies. 17387621 2007