Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2299941
rs2299941
0.010 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: rs2735343
rs2735343
0.010 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: rs1114167628
rs1114167628
0.010 GeneticVariation BEFREE These results further demonstrated the functional consequences of breast cancer-derived nherf1 mutations (K172N and D301V), and suggested the causal role of NHERF1 in tumor development and progression. 24012959

2013

dbSNP: rs868257011
rs868257011
0.010 GeneticVariation BEFREE These results further demonstrated the functional consequences of breast cancer-derived nherf1 mutations (K172N and D301V), and suggested the causal role of NHERF1 in tumor development and progression. 24012959

2013

dbSNP: rs1029342144
rs1029342144
0.010 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: rs121913294
rs121913294
0.010 GeneticVariation BEFREE However, p53 inactivation by R172H point mutation combined with myrAKT transgenic expression significantly increased the percentage and size of mammary carcinoma observed, but was not sufficient to promote full penetrance of the tumorigenic phenotype. 20174572

2010

dbSNP: rs786204929
rs786204929
0.010 GeneticVariation BEFREE In this study, the eukaryotic expression vectors pBP-wt-PTEN (containing a wild-type PTEN gene) and pBP-G129R-PTEN (containing a mutant PTEN gene) were used to transfect breast cancer ZR-75-1 cells. 17928923

2007

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR