Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
0.740 GeneticVariation BEFREE In addition, the combined treatment of DSF and LY294002 significantly inhibited the growth of the breast tumor xenograft in nude mice induced by MDA-MB-231 cells expressing mutant PIK3CA-H1047R and PIK3CA-E545K, whereas neither DSF nor LY294002 alone could significantly retard tumor growth. 20424113

2010

dbSNP: rs121913279
rs121913279
0.740 GeneticVariation BEFREE Our results suggest that the PIK3CA H1047R oncogene targets a multipotent progenitor cell and, furthermore, show that this model recapitulates features of human breast tumors with PIK3CA H1047R. 21482677

2011

dbSNP: rs121913279
rs121913279
0.740 GeneticVariation BEFREE We found that activation of the latent Pik3ca(H1047R) allele resulted in breast tumors with multiple histological types. 22370636

2013

dbSNP: rs121913279
rs121913279
0.740 GeneticVariation BEFREE All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutations in both MET (p.T992I) and PIK3CA (p.H1047R). 24318467

2014

dbSNP: rs104886003
rs104886003
0.710 GeneticVariation BEFREE In addition, the combined treatment of DSF and LY294002 significantly inhibited the growth of the breast tumor xenograft in nude mice induced by MDA-MB-231 cells expressing mutant PIK3CA-H1047R and PIK3CA-E545K, whereas neither DSF nor LY294002 alone could significantly retard tumor growth. 20424113

2010

dbSNP: rs104894230
rs104894230
0.710 GeneticVariation BEFREE Application of these signatures to breast tumor gene expression data identified two novel discrete phenotypes characterized by concordant, aberrant activation of either the HER2, IGF1R, and AKT pathways ("the survival phenotype") or the EGFR, KRAS (G12V), RAF1, and BAD pathways ("the growth phenotype"). 28446242

2017

dbSNP: rs121909229
rs121909229
0.710 GeneticVariation BEFREE In this study, we predicted and analyzed the impact of three deleterious coding non-synonymous single nucleotide polymorphisms rs121909218 (G129E), rs121909229 (R130Q) and rs57374291 (D107N) in the PTEN gene on the phenotype of breast tumors using computational tools SIFT, Polyphen-2, PROVEAN, MUPro, POPMusic and the GETAREA server. 27221918

2016

dbSNP: rs121912664
rs121912664
0.710 GeneticVariation BEFREE A TP53 founder mutation, p.R337H, is associated with phyllodes breast tumors in Brazil. 23794094

2013

dbSNP: rs17849781
rs17849781
0.710 GeneticVariation BEFREE We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (R110P), rs17849781 (P278A) and rs28934874 (P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB. 25105660

2014

dbSNP: rs28934874
rs28934874
0.710 GeneticVariation BEFREE We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (R110P), rs17849781 (P278A) and rs28934874 (P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB. 25105660

2014

dbSNP: rs760043106
rs760043106
0.710 GeneticVariation BEFREE Our analyses suggest that there are fundamental differences in breast tumors of CHEK2:p.I157T and c.1100delC carriers. 27716369

2016

dbSNP: rs876660754
rs876660754
0.710 GeneticVariation BEFREE A direct sequencing analysis of p53 revealed a p.V173M mutation in exon 5 in both the breast tumor and the ovarian cancer. 28662703

2017

dbSNP: rs796065354
rs796065354
0.040 GeneticVariation BEFREE The ER-alpha A908G mutation was found more frequently in higher-grade breast tumors (odds ratio (OR) 2.83; 95% confidence interval (CI) 1.09 to 7.34, grade II compared with grade I), and in mixed lobular/ductal tumors (OR 2.10; 95% CI 0.86 to 5.12) compared with ductal carcinomas, although the latter finding was not statistically significant. 16280033

2005

dbSNP: rs796065354
rs796065354
0.040 GeneticVariation BEFREE Consistent with our previous finding of this somatic ERalpha mutation in breast ductal hyperplasias, we now present evidence that the A908G mutation is present in invasive breast tumors using an optimized sequencing method. 17545528

2007

dbSNP: rs796065354
rs796065354
0.040 GeneticVariation BEFREE These preliminary results suggest that OCs may interact with the ESR1 A908G mutant receptor to drive the development of some breast tumors. 17553133

2007

dbSNP: rs796065354
rs796065354
0.040 GeneticVariation BEFREE Our findings suggest that the K303R ERalpha mutation might be a new predictive marker of response to AIs in mutation-positive breast tumors, and that targeting the PI3K/Akt pathway may be a useful strategy for treating patients with tumors resistant to hormone therapy. 19487288

2009

dbSNP: rs1042522
rs1042522
0.030 GeneticVariation BEFREE Our aim was to evaluate association of R72P with breast cancer risk as well as histopathologic features of the breast tumors and survival. 16033823

2005

dbSNP: rs1042522
rs1042522
0.030 GeneticVariation BEFREE We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival. 20021639

2009

dbSNP: rs1042522
rs1042522
0.030 GeneticVariation BEFREE Taken together, we showed the preferential loss of the rs1042522 C allele, which is protective against BC progression, in breast tumors. 21810023

2011

dbSNP: rs1462893414
rs1462893414
0.030 GeneticVariation BEFREE The ER-alpha A908G mutation was found more frequently in higher-grade breast tumors (odds ratio (OR) 2.83; 95% confidence interval (CI) 1.09 to 7.34, grade II compared with grade I), and in mixed lobular/ductal tumors (OR 2.10; 95% CI 0.86 to 5.12) compared with ductal carcinomas, although the latter finding was not statistically significant. 16280033

2005

dbSNP: rs1462893414
rs1462893414
0.030 GeneticVariation BEFREE Consistent with our previous finding of this somatic ERalpha mutation in breast ductal hyperplasias, we now present evidence that the A908G mutation is present in invasive breast tumors using an optimized sequencing method. 17545528

2007

dbSNP: rs1462893414
rs1462893414
0.030 GeneticVariation BEFREE These preliminary results suggest that OCs may interact with the ESR1 A908G mutant receptor to drive the development of some breast tumors. 17553133

2007

dbSNP: rs11249433
rs11249433
0.020 GeneticVariation BEFREE This is the first study to show that the expression of NOTCH2 differs in subgroups of breast tumors and by genotypes of the breast cancer-associated SNP rs11249433. 20482849

2010

dbSNP: rs11249433
rs11249433
0.020 GeneticVariation BEFREE Our results in two independent data sets suggest that rs11249433, which is located between the NOTCH2 and FCGR1B genes within the 1p11.2 locus, is more strongly associated with risk of breast tumors with low or absent E-cadherin expression, and suggest that evaluation of E-cadherin tumor tissue expression may be useful in clarifying breast cancer risk factor associations. 24292867

2014

dbSNP: rs1131691014
rs1131691014
0.020 GeneticVariation BEFREE Our aim was to evaluate association of R72P with breast cancer risk as well as histopathologic features of the breast tumors and survival. 16033823

2005