Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs1045642
rs1045642
0.010 GeneticVariation BEFREE ABCB1 C3435T gene polymorphism as a potential biomarker of clinical outcomes in HER2-positive breast cancer patients. 27137881

2016

dbSNP: rs1045485
rs1045485
0.010 GeneticVariation BEFREE Although hormone receptors and the molecular profile did not indicate any significant association with different genotypes (P > .05), patients with CC genotype of rs1045485 were more likely to have HER2-positive breast cancer than those with GG genotype (odds ratio [OR], 2.93; 95% confidence interval [CI], 1.0 4-8.26). 31362911

2019

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

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: rs1058808
rs1058808
0.020 GeneticVariation BEFREE In a retrospective cohort study of 237 women with non-metastatic HER2-positive breast cancer treated with trastuzumab, traditional risk factors were assessed by review of medical records, alcohol use by an administered questionnaire to women (n=132), and HER2 polymorphisms (Ile655Val and Ala1170Pro) using TaqMan assays (n=73). 23749910

2013

dbSNP: rs121913279
rs121913279
0.010 GeneticVariation BEFREE In the present study, we generated a compound mouse model that genetically mimics HER2-positive breast cancer with coexisting PIK3CA(H1047R). 26640141

2016

dbSNP: rs749539903
rs749539903
0.010 GeneticVariation BEFREE In the present study, we generated a compound mouse model that genetically mimics HER2-positive breast cancer with coexisting PIK3CA(H1047R). 26640141

2016

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: 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: rs1136201
rs1136201
0.020 GeneticVariation BEFREE Influence of the HER2 Ile655Val polymorphism on trastuzumab-induced cardiotoxicity in HER2-positive breast cancer patients: a meta-analysis. 26049584

2015

dbSNP: rs3746083
rs3746083
0.010 GeneticVariation BEFREE Interestingly, by sequencing the entire TTP coding region in Hs578T cells that do not express the TTP protein, we identified a synonymous polymorphism (rs3746083) that showed a statistically significant association with a lack of response to Herceptin/Trastuzumab in HER2-positive-breast cancer patients. 21875902

2011

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: rs4919510
rs4919510
0.010 GeneticVariation BEFREE Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contributes to the risk of HER2-positive breast cancer but not other subtypes. 22586447

2012

dbSNP: rs2293554
rs2293554
0.010 GeneticVariation BEFREE Several SNPs were associated with all, ER-positive, and HER2-positive breast cancers; however, after correcting for multiple comparisons (i.e., p < 0.0008), only rs2293554 was statistically significantly associated with HER2-positive breast cancer (OR = 1.98, 95% CI 1.34-2.92, uncorrected p = 0.0005). 26758508

2016

dbSNP: rs1130214
rs1130214
0.010 GeneticVariation BEFREE The A allele of <i>AKT1</i>:rs1130214 (OR, 2.095; <i>p</i>=0.011) and the C allele of <i>NQO2</i>:rs2071002 (OR, 1.632; <i>p</i>=0.045) were associated with HER2-positive breast cancer. 29963112

2018

dbSNP: rs2071002
rs2071002
0.010 GeneticVariation BEFREE The A allele of <i>AKT1</i>:rs1130214 (OR, 2.095; <i>p</i>=0.011) and the C allele of <i>NQO2</i>:rs2071002 (OR, 1.632; <i>p</i>=0.045) were associated with HER2-positive breast cancer. 29963112

2018

dbSNP: rs2227982
rs2227982
0.010 GeneticVariation BEFREE The haplotype analysis showed that the Ars10204525 Trs2227982 Crs7421861 haplotype was associated with a significantly decreased risk of breast cancer (OR = 0.50, 95% CI = 0.34-0.75).Our findings support an association between the PD-1 rs2227982 polymorphism and decreased breast cancer risk, especially in Her-2 positive breast cancer patients in the Chinese population. 27227944

2016

dbSNP: rs1058808
rs1058808
0.020 GeneticVariation BEFREE This study demonstrates that only the Ala1170Pro polymorphism is associated with prognostic factors in HER2-positive breast cancer patients. 27788409

2016