Gene: ESR1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519827
rs1057519827
ESR1
C 0.700 GeneticVariation CLINVAR Emergence of constitutively active estrogen receptor-α mutations in pretreated advanced estrogen receptor-positive breast cancer. 24398047

2014
dbSNP: rs1057519714
rs1057519714
ESR1
C 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs1057519715
rs1057519715
ESR1
A 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs1057519716
rs1057519716
ESR1
A 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs1057519717
rs1057519717
ESR1
G 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs1057519717
rs1057519717
ESR1
G 0.700 CausalMutation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510

2013
dbSNP: rs1057519827
rs1057519827
ESR1
C 0.700 GeneticVariation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510

2013
dbSNP: rs1057519827
rs1057519827
ESR1
C 0.700 GeneticVariation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs796065354
rs796065354
ESR1
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
ESR1
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
ESR1
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
ESR1
0.040 GeneticVariation BEFREE The ER-alpha A908G mutation was found more frequently in higher-grade bre</span>ast tumors (odds ratio (OR) 2.83; 95% confidence interval (CI) 1.09 to 7.34, grade II compared with grade I), and in mixed lobular/ductal tumors (OR 2.10; 95% CI 0.86 to 5.12) compared with ductal carcinomas, although the latter finding was not statistically significant. 16280033

2005
dbSNP: rs1462893414
rs1462893414
ESR1
0.030 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: rs1462893414
rs1462893414
ESR1
0.030 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: rs1462893414
rs1462893414
ESR1
0.030 GeneticVariation BEFREE The ER-alpha A908G mutation was found more frequently in higher-grade bre</span>ast tumors (odds ratio (OR) 2.83; 95% confidence interval (CI) 1.09 to 7.34, grade II compared with grade I), and in mixed lobular/ductal tumors (OR 2.10; 95% CI 0.86 to 5.12) compared with ductal carcinomas, although the latter finding was not statistically significant. 16280033

2005
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