|
rs10484919
|
|
|
0.020 |
GeneticVariation |
BEFREE |
After conditional regression and linkage disequilibrium analyses, rs6929137 and rs10484919 tend to be susceptible markers of breast cancer</span> in this region and both of them were located at sites of histone modification according to the UCSC (http://genome.ucsc.edu/) genome database.
|
21528353 |
2011 |
|
rs10484919
|
|
|
0.020 |
GeneticVariation |
BEFREE |
After adjusting for age, body mass index, parity, and menopausal status, we found that in our cohort of 865 Malaysian Chinese, three SNPs in the 6q25.1 region near ESR1 (rs2046210, rs12173570, and rs10484919) that were associated with mammographic density, breast cancer risk, or breast size in previous GWAS were significantly associated with both percentage density and absolute dense area.
|
26677210 |
2016 |
|
rs1062577
|
|
|
0.020 |
GeneticVariation |
BEFREE |
rs1062577 A allele is significantly and dramatically associated with the elevated risk and greater stages of breast cancer.
|
28216037 |
2017 |
|
rs1062577
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These results showed that the ESR1 rs1062577 polymorphism increased breast cancer risk in Han Chinese women, which might be used as a new SNP marker.
|
26850117 |
2016 |
|
rs1207112399
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The G473A polymorphism (rs1800449) results in the Arg158Gln amino acid substitution in the LOX propeptide, compromises its tumour suppressive activity, and was associated with an increased breast cancer risk in a Chinese Han population.
|
25141126 |
2014 |
|
rs12525163
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 × 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 × 10(-) (9)) were associated with TN breast cancer.
|
24325915 |
2014 |
|
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 |
|
rs1455751791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data suggest that ER-beta polymorphism in exon 7 codon 392 (C1176G) is correlated with various aspects of breast cancer and lymph node metastasis in our group of patients.
|
20604969 |
2010 |
|
rs1459132456
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To evaluate the role of this polymorphism as a risk factor for breast cancer in Kurdish patients and to investigate the possible association between Arg194Trp x-ray repair cross-complementing group 1 (XRCC1) gene polymorphisms with clinical and histopathological outcomes of patients with breast cancer.
|
27279507 |
2016 |
|
rs1462893414
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The A908G (Lys303-->Arg) change in the gene encoding oestrogen receptor-alpha (ER-alpha) creates a hypersensitivity to oestradiol and would have significant consequences if present in breast carcinoma, especially those treated with endocrine therapy.
|
15642159 |
2005 |
|
rs1462893414
|
|
|
0.030 |
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
|
|
|
0.030 |
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 |
|
rs1801132
|
|
|
0.050 |
GeneticVariation |
BEFREE |
To investigate the association between PvuII (rs2234693), XbaI (rs9340799) and P325P (rs1801132) polymorphisms of ESR1 gene with the risk of breast cancer under different population categorizations, we searched multiple databases for data collection, and performed the meta-analysis on a total of 25 case-control studies.
|
26434778 |
2015 |
|
rs1801132
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Our results showed that rs3798577 was significantly associated with the risk of breast cancer, the common allele C conferring susceptibility (p-trend=4 x 10(-5)); rs3798577 was also correlated with PR expression (p=0.01), but not with ER expression; rs2228480 (p=0.047) and rs1801132 (p=0.02) were associated with the age at diagnosis; rs1801132 was correlated with hypercholesterolemia (p=0.003) and increased BMI (body mass index) (p=0.01); rs2234693 showed a low significant association (p=0.042) with the tumor grade; rs3798577 was correlated with disease-free survival (p=0.05), allele C conferring increased risk for relapses, but it reached not statistical significance after adjustments.
|
20429621 |
2010 |
|
rs1801132
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Four single nucleotide polymorphisms (SNPs) in three genes were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry [CCND1 Ex4-1G>A (rs9344), CDK7 Ex2-28C>T (rs2972388), ESR1 P325P Ex4-122G>C (rs1801132), and ESR1 T594T Ex8+229G>A (rs2228480)], and their associations with breast cancer risk were assessed.
|
19941161 |
2010 |
|
rs1801132
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Variant genotypes of the rs1801132 polymorphism were also associated with a decreased breast cancer risk in a dominant model in 5,649 cases and 6,856 controls (GG/GC vs. CC: OR, 0.92, 95% CI, 0.85-0.99).
|
19760036 |
2010 |
|
rs1801132
|
|
|
0.050 |
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 |
|
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 |
|
rs200075329
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study suggests that the ER S118P variant does not affect risk for breast cancer or hormone therapy resistance.
|
30560461 |
2019 |
|
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 |
|
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 |
|
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 |
|
rs2077647
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Rs2228480 had a large protective effect in Caucasians, while rs2077647 was not associated with BC risk.
|
27070141 |
2016 |
|
rs2077647
|
|
|
0.020 |
GeneticVariation |
BEFREE |
ESR1 rs9340799(XbaI) (T>C) variants CC or TC were associated with reduced breast cancer risk (HR = 0.82,95% CI = 0.67-1.0), and ESR1 rs2077647 (T>C) variants CC or TC was associated with reduced distant recurrence risk (HR = 0.69, 95% CI = 0.53-0.90), both regardless of the treatments.
|
26590813 |
2015 |
|
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 |