Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2306969
rs2306969
FUT3 ; LOC101928844
0.010 GeneticVariation BEFREE A luciferase reporter assay was performed using two breast tumor cell lines to evaluate respectively the impact of FUT3 rs2306969 (-6951 CC) and (-6951 TT) on protein expression. 30929162

2019
dbSNP: rs747489687
rs747489687
MCPH1
0.010 GeneticVariation BEFREE The MCPH1 p.Arg304ValfsTer3 carrier breast tumors showed recurrent tumor suppressor gene TP53 mutations, which were also significantly over-represented in breast tumors with somatically inactivated MCPH1. 30809794

2019
dbSNP: rs1972820
rs1972820
ERBB4
0.010 GeneticVariation BEFREE However, no study has been dedicated to analyze the significance of microRNA-related SNP rs1972820, located in ERBB4 3'-untranslated region (UTR), in breast tumors. 28508829

2018
dbSNP: rs6505162
rs6505162
NSRP1 ; MIR423 ; MIR3184
0.010 GeneticVariation BEFREE Significantly higher levels of miR-140-5p, miR-194 and miR-423-5p (the last of which harbours the single-nucleotide polymorphism rs6505162) were seen in the breast tumours of Nigerian patients when compared with other ethnic groups (all p < 0.0001). miR-101 was overexpressed in breast cancers in the Indian patients. 29791912

2018
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
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: rs876660754
rs876660754
TP53
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: rs555607708
rs555607708
CHEK2
A 0.700 CausalMutation CLINVAR Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma. 28514723

2017
dbSNP: rs1217691063
rs1217691063
MTHFR
0.010 GeneticVariation BEFREE Subgroup analyses by menopausal status, hormone receptor status of breast tumors (estrogen receptor [ER], progesterone receptor [PR] and human epidermal growth factor receptor 2 [HER2]), alcohol intake and MTHFR polymorphisms (677C > T and 1298A > C) were also performed. 27905104

2017
dbSNP: rs121913529
rs121913529
KRAS
0.010 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: rs1273593548
rs1273593548
PIK3CG
0.010 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: rs1444192401
rs1444192401
KRT7
0.010 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: rs1801725
rs1801725
CASR
0.010 GeneticVariation BEFREE These data suggest that decreased sensitivity of the CaSR to calcium due to inactivating polymorphisms at rs1801725, may predispose up to 20% of BC cases to high circulating calcium-associated larger and/or aggressive breast tumors. 28764683

2017
dbSNP: rs397507444
rs397507444
MTHFR
0.010 GeneticVariation BEFREE Subgroup analyses by menopausal status, hormone receptor status of breast tumors (estrogen receptor [ER], progesterone receptor [PR] and human epidermal growth factor receptor 2 [HER2]), alcohol intake and MTHFR polymorphisms (677C > T and 1298A > C) were also performed. 27905104

2017
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
0.010 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: rs777081311
rs777081311
ERBB2
0.010 GeneticVariation BEFREE Subgroup analyses by menopausal status, hormone receptor status of breast tumors (estrogen receptor [ER], progesterone receptor [PR] and human epidermal growth factor receptor 2 [HER2]), alcohol intake and MTHFR polymorphisms (677C > T and 1298A > C) were also performed. 27905104

2017
dbSNP: rs904571820
rs904571820
ESR1
0.010 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: rs121913279
rs121913279
PIK3CA
G 0.740 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913279
rs121913279
PIK3CA
T 0.740 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
A 0.710 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
C 0.710 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121909229
rs121909229
PTEN
C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121909229
rs121909229
PTEN
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121909229
rs121909229
PTEN
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: rs121909229
rs121909229
PTEN
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016