Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913273
rs121913273
0.010 GeneticVariation BEFREE A nonsense mutation in PTPN11 (K99X), a pathogenic CCND1 splice site variant (P241P), a hotspot missense mutation in PIK3CA (E542K) and a hotspot missense mutation in TP53 (R249S); were observed in 25%, 75%, 30% and 40% of the HER2+ BC tissue samples, respectively. 30535550

2019

dbSNP: rs186919241
rs186919241
0.010 GeneticVariation BEFREE A nonsense mutation in PTPN11 (K99X), a pathogenic CCND1 splice site variant (P241P), a hotspot missense mutation in PIK3CA (E542K) and a hotspot missense mutation in TP53 (R249S); were observed in 25%, 75%, 30% and 40% of the HER2+ BC tissue samples, respectively. 30535550

2019

dbSNP: rs28933368
rs28933368
0.010 GeneticVariation BEFREE A nonsense mutation in PTPN11 (K99X), a pathogenic CCND1 splice site variant (P241P), a hotspot missense mutation in PIK3CA (E542K) and a hotspot missense mutation in TP53 (R249S); were observed in 25%, 75%, 30% and 40% of the HER2+ BC tissue samples, respectively. 30535550

2019

dbSNP: rs28934571
rs28934571
0.010 GeneticVariation BEFREE A nonsense mutation in PTPN11 (K99X), a pathogenic CCND1 splice site variant (P241P), a hotspot missense mutation in PIK3CA (E542K) and a hotspot missense mutation in TP53 (R249S); were observed in 25%, 75%, 30% and 40% of the HER2+ BC tissue samples, respectively. 30535550

2019

dbSNP: rs387907158
rs387907158
0.010 GeneticVariation BEFREE A nonsense mutation in PTPN11 (K99X), a pathogenic CCND1 splice site variant (P241P), a hotspot missense mutation in PIK3CA (E542K) and a hotspot missense mutation in TP53 (R249S); were observed in 25%, 75%, 30% and 40% of the HER2+ BC tissue samples, respectively. 30535550

2019

dbSNP: rs1442481831
rs1442481831
0.010 GeneticVariation BEFREE Of these, two mutations, the somatic mutations <i>ERBB4</i>-V721I and <i>ERBB4</i>-S303F, were stably transfected into HCC1954 (PIK3CA mutant), HCC1569 (PIK3CA wildtype) and BT474 (PIK3CA mutant, ER positive) HER2+ breast cancer cell lines for functional <i>in vitro</i> experiments. 30023006

2018

dbSNP: rs1484791833
rs1484791833
0.010 GeneticVariation BEFREE Of these, two mutations, the somatic mutations <i>ERBB4</i>-V721I and <i>ERBB4</i>-S303F, were stably transfected into HCC1954 (PIK3CA mutant), HCC1569 (PIK3CA wildtype) and BT474 (PIK3CA mutant, ER positive) HER2+ breast cancer cell lines for functional <i>in vitro</i> experiments. 30023006

2018

dbSNP: rs1058808
rs1058808
0.010 GeneticVariation BEFREE The results of the present study suggest that patients with HER2-negative breast cancer with the HER2 Pro1170Ala polymorphism variant exhibit a decreased survival outcome. 28529593

2017

dbSNP: rs1799864
rs1799864
0.010 GeneticVariation BEFREE CCR2-V64I genetic polymorphism: a possible involvement in HER2+ breast cancer. 25716470

2016

dbSNP: rs2016347
rs2016347
0.010 GeneticVariation BEFREE Additionally, we found a SNP (rs2016347) in IGF1R as a potential predictive marker for chemotherapy efficacy in BC patients treated with TAC. 26738606

2016

dbSNP: rs759478535
rs759478535
0.010 GeneticVariation BEFREE CCR2-V64I genetic polymorphism: a possible involvement in HER2+ breast cancer. 25716470

2016

dbSNP: rs763059810
rs763059810
0.010 GeneticVariation BEFREE CCR2-V64I genetic polymorphism: a possible involvement in HER2+ breast cancer. 25716470

2016

dbSNP: rs1057519803
rs1057519803
0.010 GeneticVariation BEFREE Whole-exome sequencing of the primary HER2-negative breast cancer and its HER2-negative synchronous liver metastasis from a 46-year-old female revealed the presence of an activating and clonal HER3 G284R mutation. 25953157

2015

dbSNP: rs10825036
rs10825036
0.010 GeneticVariation BEFREE In the two-stage GWAS stratified by tumor subtypes, rs166870 and rs10825036 were consistently associated with DFS in the HR+ HER2- and HR- HER2- breast cancer subtypes, respectively (Prs166870 = 2.88 × 10(-7) and Prs10825036 = 3.54 × 10(-7) in the combined set). 25867717

2015

dbSNP: rs166870
rs166870
0.010 GeneticVariation BEFREE In the two-stage GWAS stratified by tumor subtypes, rs166870 and rs10825036 were consistently associated with DFS in the HR+ HER2- and HR- HER2- breast cancer subtypes, respectively (Prs166870 = 2.88 × 10(-7) and Prs10825036 = 3.54 × 10(-7) in the combined set). 25867717

2015

dbSNP: rs758204762
rs758204762
0.010 GeneticVariation BEFREE Whole-exome sequencing of the primary HER2-negative breast cancer and its HER2-negative synchronous liver metastasis from a 46-year-old female revealed the presence of an activating and clonal HER3 G284R mutation. 25953157

2015

dbSNP: rs1136201
rs1136201
0.010 GeneticVariation BEFREE At a median follow-up of 44 months, HER2 Ile655Val polymorphism was not significantly associated with survival either in the entire study population of 4167 patients or in 2976 HER2-negative breast cancer patients. 24608202

2014

dbSNP: rs8170
rs8170
0.010 GeneticVariation BEFREE Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10(-5)] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10(-7)). 22331459

2012