Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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: 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 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: rs121434592
rs121434592
0.720 GeneticVariation BEFREE Available paired tissue samples from breast tumors known to harbor mutations underwent massARRAY genotyping (n = 70) to identify PIK3CA and AKT1(E17K) mutations. 21617917

2012

dbSNP: rs121434592
rs121434592
0.720 GeneticVariation BEFREE Moreover, AKT1(E17K) prevents HER2-driven mammary tumor formation, in part through negative feedback inhibition of RTK signaling. 27004402

2017

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: 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

2015

dbSNP: rs28934578
rs28934578
0.710 GeneticVariation BEFREE Although both R175H/R175HmWnt-1(R175HmWnt-1) and p53(-/-)mWnt-1 mice died from mammary tumor at the same kinetics, which was much earlier than mWnt-1 mice, most of the R175HmWnt-1 mice developed multiple mammary tumors per mouse, whereas p53(-/-)mWnt-1 and mWnt-1 mice mostly developed one tumor per mouse. 22824795

2013

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

2015

dbSNP: rs11540654
rs11540654
0.040 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: rs11540654
rs11540654
0.040 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

2015

dbSNP: rs11540654
rs11540654
0.040 GeneticVariation BEFREE Association of the germline TP53 R72P and MDM2 SNP309 variants with breast cancer survival in specific breast tumor subgroups. 21667122

2012

dbSNP: rs11540654
rs11540654
0.040 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

2010

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 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: 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 The estrogen receptor-alpha A908G (K303R) mutation occurs at a low frequency in invasive breast tumors: results from a population-based study. 16280033

2006

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: rs11249433
rs11249433
0.020 GeneticVariation BEFREE NOTCH2 in breast cancer: association of SNP rs11249433 with gene expression in ER-positive breast tumors without TP53 mutations. 20482849

2010

dbSNP: rs1056892
rs1056892
0.010 GeneticVariation BEFREE Another variant CBR3 730G>A was associated with higher doxorubicinol AUC (P=0.009, GG vs. AA) and CBR3 expression in breast tumor tissue (P=0.001, GG vs AA). 18551042

2008

dbSNP: rs13283662
rs13283662
0.010 GeneticVariation BEFREE In conclusion, except for the association of rs13283662 with TOX3 gene expression indicating a tumor suppressor role of TOX3, our findings suggest that breast cancer low-risk loci generally do not affect expression of the nearest gene in breast tumor tissue. 21748294

2012

dbSNP: rs137852567
rs137852567
AR
0.010 GeneticVariation BEFREE Transcriptional activation of a mouse mammary tumor virus-chloramphenicol acetyltransferase (MMTV-CAT) reporter gene by AR mutant Y763C was negligible at 0.1 nM R1881 and only 55% at 10 nM R1881 when compared to the maximal response with the normal AR, as assessed by CAT activity. 7581399

1995

dbSNP: rs1675126
rs1675126
0.010 GeneticVariation BEFREE The synonymous SNP rs1675126 in exon 7 of INCENP was associated with overall breast cancer risk [per A allele odds ratio (OR) 0.95, 95% confidence interval (CI) 0.92-0.98, P = 0.007] and particularly with estrogen receptor (ER)-negative breast tumors (per A allele OR 0.89, 95% CI 0.83-0.95, P = 0.0005). 25586992

2015