Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 These findings provide the basis for R175H to promote the initiation of breast cancer by expanding MESCs. 22824795

2013

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
T 0.750 CausalMutation CLINVAR

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: 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 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
T 0.740 CausalMutation CLINVAR

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: rs11540652
rs11540652
T 0.720 CausalMutation CLINVAR

dbSNP: rs1131691003
rs1131691003
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691042
rs1131691042
T 0.700 CausalMutation CLINVAR

dbSNP: rs28934574
rs28934574
A 0.700 CausalMutation CLINVAR

dbSNP: rs55832599
rs55832599
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587782705
rs587782705
A 0.700 CausalMutation CLINVAR

dbSNP: rs786201057
rs786201057
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE These findings cannot support contribution of rs1042522 polymorphism to breast cancer risk in an Iranian population. 31721533

2020

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 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 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: rs1131691014
rs1131691014
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