rs139960913
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs796065354
|
|
G |
0.760 |
SusceptibilityMutation |
CLINVAR |
A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions.
|
10945602 |
2000 |
rs796065354
|
|
G |
0.760 |
SusceptibilityMutation |
CLINVAR |
This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors.
|
16280033 |
2005 |
rs796065354
|
|
|
0.760 |
GeneticVariation |
BEFREE |
This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors.
|
16280033 |
2005 |
rs1462893414
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors.
|
16280033 |
2005 |
rs188957694
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The majority of spontaneous and DMBA-induced carcinomas and sarcomas from p53(R270H/+)WAPCre mice is estrogen receptor alpha positive, and expression profiles of genes also implicated in human breast cancer appear similarly altered.
|
16166291 |
2005 |
rs200960801
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk.
|
16261413 |
2005 |
rs1364963022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was no statistical difference in the C1qA[276A/G] allelic distribution between all subjects with breast cancer and controls.
|
16465510 |
2006 |
rs200282497
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was no statistical difference in the C1qA[276A/G] allelic distribution between all subjects with breast cancer and controls.
|
16465510 |
2006 |
rs796065354
|
|
G |
0.760 |
SusceptibilityMutation |
CLINVAR |
Here, we have optimized the detection of a somatic mutation, an A908G transition of ERalpha, and examined its association with clinical and biological features of invasive breast cancer.
|
17545528 |
2007 |
rs796065354
|
|
|
0.760 |
GeneticVariation |
BEFREE |
ESR1 A908G mutation-positive breast cancer was significantly associated with a first-degree family history of breast cancer (odds ratio [OR] = 2.69, 95% confidence interval [CI] = 1.15 to 6.28), whereas mutation-negative breast cancer was not.
|
17553133 |
2007 |
rs796065354
|
|
G |
0.760 |
SusceptibilityMutation |
CLINVAR |
There was also the suggestion that longer duration of oral contraceptive (OC) use (OR = 3.73, 95% CI = 1.16 to 12.03; Ptrend = 0.02 for use of more than 10 years) and recent use of OCs (OR = 3.63, 95% CI = 0.80 to 16.45; Ptrend = 0.10 for use within 10 years) were associated with ESR1 A908G mutation-positive breast cancer; however, ORs for comparison of the two case subgroups were not statistically significant.
|
17553133 |
2007 |
rs2234693
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In this study, we investigated breast cancer risk associated with genotypes and haplotypes resulting from four ESR1 single nucleotide polymorphisms (SNPs), rs746432, rs2234693, rs9340799, and rs1801132.
|
17268813 |
2007 |
rs9340799
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In this study, we investigated breast cancer risk associated with genotypes and haplotypes resulting from four ESR1 single nucleotide polymorphisms (SNPs), rs746432, rs2234693, rs9340799, and rs1801132.
|
17268813 |
2007 |
rs1801132
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In this study, we investigated breast cancer risk associated with genotypes and haplotypes resulting from four ESR1 single nucleotide polymorphisms (SNPs), rs746432, rs2234693, rs9340799, and rs1801132.
|
17268813 |
2007 |
rs1462893414
|
|
|
0.020 |
GeneticVariation |
BEFREE |
ESR1 A908G mutation-positive breast cancer was significantly associated with a first-degree family history of breast cancer (odds ratio [OR] = 2.69, 95% confidence interval [CI] = 1.15 to 6.28), whereas mutation-negative breast cancer was not.
|
17553133 |
2007 |
rs201145204
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among the 378Ser variant allele carriers, the 24Pro/Pro wild-type homozygote was associated with a significantly increased breast cancer risk (adjusted OR=1.81, 95% CI=1.11-2.95), but the subjects having 24Pro/Ser or Ser/Ser variant genotypes had a significantly decreased risk (adjusted OR=0.74, 95% CI=0.56-0.99).
|
17028982 |
2007 |
rs746432
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we investigated breast cancer risk associated with genotypes and haplotypes resulting from four ESR1 single nucleotide polymorphisms (SNPs), rs746432, rs2234693, rs9340799, and rs1801132.
|
17268813 |
2007 |
rs796065354
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Indeed, a breast cancer-associated mutation at K303 (K303R) alters methylation at K302 in vitro and in vivo.
|
18471979 |
2008 |
rs2144025
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A multi-locus analysis of five adjacent tagSNPs suggested a region in ESR1 (between rs3003925 and rs2144025) for association with breast cancer risk (p = 0.001), but the result did not withstand adjustment for multiple comparisons (p = 0.086).
|
18271972 |
2008 |
rs3003925
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A multi-locus analysis of five adjacent tagSNPs suggested a region in ESR1 (between rs3003925 and rs2144025) for association with breast cancer risk (p = 0.001), but the result did not withstand adjustment for multiple comparisons (p = 0.086).
|
18271972 |
2008 |
rs796065354
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Expression of the K303R estrogen receptor-alpha breast cancer mutation induces resistance to an aromatase inhibitor via addiction to the PI3K/Akt kinase pathway.
|
19487288 |
2009 |
rs3798577
|
|
|
0.060 |
GeneticVariation |
BEFREE |
This study provides evidence that polymorphisms CYP17 rs743572, CYP19 rs10046 and ER-alpha rs3798577 are associated with breast cancer risk among Chinese women.
|
18629629 |
2009 |
rs3020314
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations.
|
19126777 |
2009 |
rs761843408
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a large multiethnic case-control study, the G/A870 polymorphism conferred no significant risk for breast cancer overall or by stage or estrogen receptor (ER) status.
|
19287456 |
2009 |