Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
0.010 GeneticVariation BEFREE In conclusion, genetic variants in <i>TP53</i> were found in all TNBC tumors, with rs1042522 being the most frequent (94% of TNBC biopsies), which had not been previously reported in TNBC. 30867801

2019

dbSNP: rs13000023
rs13000023
0.010 GeneticVariation BEFREE Additionally, rs4849887 was significantly associated with overall BC risk, and both rs2363956 and rs13000023 were associated with TNBC-specific risk, although none as strongly as the Duffy-null variant. 31356281

2019

dbSNP: rs141366047
rs141366047
0.010 GeneticVariation BEFREE To assess the context-dependent roles, we carried out MDM2 and MDMX knockdown in orthotopic tumors of TNBC MDA-MB-231 cells expressing mtp53 R280K and MDM2 knockdown in ERα<sup>+</sup> T47D cells expressing mtp53 L194F. 30642351

2019

dbSNP: rs148047459
rs148047459
0.010 GeneticVariation BEFREE To assess the context-dependent roles, we carried out MDM2 and MDMX knockdown in orthotopic tumors of TNBC MDA-MB-231 cells expressing mtp53 R280K and MDM2 knockdown in ERα<sup>+</sup> T47D cells expressing mtp53 L194F. 30642351

2019

dbSNP: rs2491231
rs2491231
0.010 GeneticVariation BEFREE The rs2491231 variant in the <i>FLT3</i> gene was identified in 84% (16/19) of the samples, which not yet reported for TNBC, to the best of our knowledge. 30867801

2019

dbSNP: rs2814778
rs2814778
0.010 GeneticVariation BEFREE Frequency of the Duffy-null allele (rs2814778; an African ancestral variant adopted under selective pressure as protection against malaria) was associated with TNBC-specific risk (P < 0.0001), quantified West African Ancestry (P < 0.0001) and was more common in AA, Ghanaians, and TNBC cases. 31356281

2019

dbSNP: rs40239
rs40239
MET
0.010 GeneticVariation BEFREE <b>Conclusion:</b> Our case-control study suggests that MET T1010I seems to be a risk factor for TNBC in the Caucasian Greek population, in contrast with MET rs40239, where no correlation was found. 31213837

2019

dbSNP: rs4849887
rs4849887
0.010 GeneticVariation BEFREE Additionally, rs4849887 was significantly associated with overall BC risk, and both rs2363956 and rs13000023 were associated with TNBC-specific risk, although none as strongly as the Duffy-null variant. 31356281

2019

dbSNP: rs4938723
rs4938723
0.010 GeneticVariation BEFREE Prognostic significance of miR-34 rs4938723 T > C polymorphism in triple negative breast cancer patients. 30935968

2019

dbSNP: rs56391007
rs56391007
MET
0.010 GeneticVariation BEFREE <b>Conclusion:</b> Our case-control study suggests that MET T1010I seems to be a risk factor for TNBC in the Caucasian Greek population, in contrast with MET rs40239, where no correlation was found. 31213837

2019

dbSNP: rs769772228
rs769772228
0.010 GeneticVariation BEFREE To assess the context-dependent roles, we carried out MDM2 and MDMX knockdown in orthotopic tumors of TNBC MDA-MB-231 cells expressing mtp53 R280K and MDM2 knockdown in ERα<sup>+</sup> T47D cells expressing mtp53 L194F. 30642351

2019

dbSNP: rs11615
rs11615
0.010 GeneticVariation BEFREE Our findings firstly show that the T allele of ERCC1 rs11615 can serve as a predictive biomarker for breast cancer and TNBC. 30096175

2018

dbSNP: rs12075
rs12075
0.010 GeneticVariation BEFREE Our study suggested that rs12075 could be served as a key predictive factor of recurrence risk in breast cancer, especially for TNBC subtype. 30358125

2018

dbSNP: rs121913016
rs121913016
0.010 GeneticVariation BEFREE Whole exome sequencing in triple negative breast cancer cases (n = 8) and targeted sequencing in healthy controls (n = 48) revealed BRIP1 rs552752779 (MAF: 75% vs. 6.25%, OR 45.00, 95% CI 9.43-243.32), ERBB2 rs527779103 (MAF: 62.5% vs. 7.29%, OR 21.19, 95% CI 5.11-94.32), ERCC2 rs121913016 (MAF: 56.25% vs. 7.29%, OR 16.34, 95% CI 4.02-70.41), MSH6 rs2020912 (MAF: 56.25% vs. 1.04%, OR 122.13, 95% CI 12.29-2985.48) as risk factors for triple negative breast cancer. 30136158

2018

dbSNP: rs1235679626
rs1235679626
0.010 GeneticVariation BEFREE Collectively, these findings provide the first functional evidence for the M276I mutation in promoting TNBC progression. 30093560

2018

dbSNP: rs1360485
rs1360485
0.010 GeneticVariation BEFREE In addition, the presence of one G allele in SNPs rs1360485 or rs2249825 was associated with a higher risk of progressing to T2 tumor and distant metastasis amongst HER2-enriched and triple-negative breast cancer (TNBC) tumors compared with luminal A and luminal B tumors. 29725248

2018

dbSNP: rs1412125
rs1412125
0.010 GeneticVariation BEFREE Furthermore, having one C allele in the rs1412125 domain increased the risk of pathologic grade 3 disease in HER2-enriched and TNBC tumors. 29725248

2018

dbSNP: rs142030651
rs142030651
0.010 GeneticVariation BEFREE A point mutation in the adenoviral E1A binding protein p300 (EP300-G211S) was significantly correlated to this TNBC subgroup. 30132219

2018

dbSNP: rs1651654
rs1651654
0.010 GeneticVariation BEFREE As shown in this analysis, rs1651654 and exm585172 SNPs are found to be determinants of TNBC risk. 28918577

2018

dbSNP: rs1801157
rs1801157
0.010 GeneticVariation BEFREE The present study analyzed genetic polymorphisms in CXCL12 (rs1801157, G > A) and CXCR4 (rs2228014, C > T) and CXCR4 immunostaining in tumor tissues from patients with triple negative breast cancer (TNBC) aiming to evaluate their possible role in its' susceptibility and prognosis. 29926386

2018

dbSNP: rs200928781
rs200928781
0.010 GeneticVariation BEFREE CONCLUSIONS Our findings indicated that CHEK2 Y390C mutation induced the drug resistance of TNBC cells to chemotherapeutic drugs through administrating cell apoptosis and cell cycle arrest via regulating p53 activation and CHEK2-p53 apoptosis pathway. 29761796

2018

dbSNP: rs2020912
rs2020912
0.010 GeneticVariation BEFREE Whole exome sequencing in triple negative breast cancer cases (n = 8) and targeted sequencing in healthy controls (n = 48) revealed BRIP1 rs552752779 (MAF: 75% vs. 6.25%, OR 45.00, 95% CI 9.43-243.32), ERBB2 rs527779103 (MAF: 62.5% vs. 7.29%, OR 21.19, 95% CI 5.11-94.32), ERCC2 rs121913016 (MAF: 56.25% vs. 7.29%, OR 16.34, 95% CI 4.02-70.41), MSH6 rs2020912 (MAF: 56.25% vs. 1.04%, OR 122.13, 95% CI 12.29-2985.48) as risk factors for triple negative breast cancer. 30136158

2018

dbSNP: rs2228014
rs2228014
0.010 GeneticVariation BEFREE The present study analyzed genetic polymorphisms in CXCL12 (rs1801157, G > A) and CXCR4 (rs2228014, C > T) and CXCR4 immunostaining in tumor tissues from patients with triple negative breast cancer (TNBC) aiming to evaluate their possible role in its' susceptibility and prognosis. 29926386

2018

dbSNP: rs2249825
rs2249825
0.010 GeneticVariation BEFREE In addition, the presence of one G allele in SNPs rs1360485 or rs2249825 was associated with a higher risk of progressing to T2 tumor and distant metastasis amongst HER2-enriched and triple-negative breast cancer (TNBC) tumors compared with luminal A and luminal B tumors. 29725248

2018

dbSNP: rs3212986
rs3212986
0.010 GeneticVariation BEFREE The rs11615 and rs3212986 of ERCC1 were investigated and evaluated for their associations with susceptibility to breast cancer, especially TNBC, in Taiwan. 30096175

2018