Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934578
rs28934578
0.750 GeneticVariation BEFREE We found that zinc re-established chemosensitivity in breast cancer SKBR3 (expressing R175H mutation) and glioblastoma U373MG (expressing R273H mutation) cell lines. 21508668

2011

dbSNP: rs28934578
rs28934578
0.750 GeneticVariation BEFREE Using the MMTV-ERBB2;mutant p53 (R175H) in vivo mouse model of ERBB2-positive breast cancer, together with mouse and human cell lines, we compared lapatinib-resistant vs. lapatinib-sensitive tumor cells biochemically and by kinome arrays and evaluated their viability in response to a variety of compounds affecting heat shock response. 29799521

2018

dbSNP: rs28934578
rs28934578
0.750 GeneticVariation BEFREE None of the intronic mutations has shown significant association with the breast cancer, two exonic mutations G13203A (rs28934578) and A14572G are significantly (P = 0.04, P = 0.007) associated with breast cancer. 24929325

2014

dbSNP: rs28934578
rs28934578
0.750 GeneticVariation BEFREE Using the SKBR3 breast cancer and p53-null H1299 lung cancer cells stably expressing the R175H p53 mutant protein, we demonstrated that GON triggers the appearance of a wild-type-like p53 protein by using conformation-specific antibodies, immunoprecipitation, DNA-binding assays and target gene expression. p53 restoration was associated with a G2/M arrest, senescence, reduced cell migration, invasion and increased cell death. 30010803

2018

dbSNP: rs28934578
rs28934578
0.750 GeneticVariation BEFREE These findings provide the basis for R175H to promote the initiation of breast cancer by expanding MESCs. 22824795

2013

dbSNP: rs28934576
rs28934576
0.740 GeneticVariation BEFREE We found that zinc re-established chemosensitivity in breast cancer SKBR3 (expressing R175H mutation) and glioblastoma U373MG (expressing R273H mutation) cell lines. 21508668

2011

dbSNP: rs28934576
rs28934576
0.740 GeneticVariation BEFREE Mutation R273H confers p53 a stimulating effect on the IGF-1R-AKT pathway via miR-30a suppression in breast cancer. 26898459

2016

dbSNP: rs28934576
rs28934576
0.740 GeneticVariation BEFREE Expression of mutant p53 (mtp53) R273H associates with increased cell elasticity, survival under serum deprivation conditions, and increased Poly (ADP ribose) polymerase 1 (PARP1) on the chromatin in the AA-derived TNBC breast cancer cell line MDA-MB-468. 26703669

2015

dbSNP: rs28934576
rs28934576
0.740 GeneticVariation BEFREE These results indicate that mtp53 R273H and PARP1 interact with replicating DNA and should be considered as dual biomarkers for identifying breast cancers that may respond to combination PARPi treatments. 31776133

2020

dbSNP: rs11540652
rs11540652
0.720 GeneticVariation BEFREE Hot Spot Mutation in TP53 (R248Q) Causes Oncogenic Gain-of-Function Phenotypes in a Breast Cancer Cell Line Derived from an African American patient. 26703669

2015

dbSNP: rs11540652
rs11540652
0.720 GeneticVariation BEFREE The R248Q mutant co-localized with amyloid-like species in a breast cancer sample, which further supported its prion-like effect. 22715097

2012

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 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 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 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

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 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 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 Our finding suggests that TP53 (Arg72Pro) polymorphism may play a significant role as risk factor for breast cancer in north Indian breast cancer patients. 26553387

2016

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 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 Role of GSTM1 (Null/Present), GSTP1 (Ile105Val) and P53 (Arg72Pro) genetic polymorphisms and the risk of breast cancer: a case control study from South India. 17696741

2008

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Two out of the four p53(wt) relapsing breast cancer patients showed the Arg72Pro allelic variant; one of these died at 75 months. 12702523

2003

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 frequency of the rs1042522 polymorphism of TP53 was significantly higher in all groups of patients with breast cancer compared with the control group. 27644661

2016