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: 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