|
rs9479118
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the > 13-year-old group, the AA genotype at rs1062577, the GG genotype at rs2881766, and the CC genotype at rs9479118 increased breast cancer susceptibility.
|
26850117 |
2016 |
|
rs10484919
|
|
Breast Carcinoma
|
|
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 |
|
rs10484919
|
|
Breast Carcinoma
|
|
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 |
|
rs1062577
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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 |
|
rs2077647
|
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Rs2228480 had a large protective effect in Caucasians, while rs2077647 was not associated with BC risk.
|
27070141 |
2016 |
|
rs2077647
|
|
Breast Carcinoma
|
|
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 |
|
rs757200716
|
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
LOX mRNA expression was significantly elevated in tumours of patients older than 55 years, postmenopausal patients, estrogen receptor positive tumours, and p53 negative tumours, but was unaffected by G473A genotype in tumours and breast cancer cell lines.
|
25141126 |
2014 |
|
rs757200716
|
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
We found a significant difference in the frequency of the LOX G473A genotype between the breast cancer and control groups.
|
20929399 |
2011 |
|
rs762292600
|
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients.
|
29086897 |
2018 |
|
rs762292600
|
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Analysis of TCGA breast cancer data revealed that the mRNA expression, total protein levels, and phosphorylation of various RTKs are decreased in human tumors harboring AKT1(E17K).
|
27004402 |
2016 |
|
rs1462893414
|
|
Breast Carcinoma
|
|
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 |
|
rs1462893414
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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 |
|
rs2881766
|
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our study suggests that polymorphisms rs2881766 and rs3020449 in estrogen receptor genes were associated with BC susceptibility as well as clinical features in Chinese women.
|
30636932 |
2019 |
|
rs2881766
|
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
In the > 13-year-old group, the AA genotype at rs1062577, the GG genotype at rs2881766, and the CC genotype at rs9479118 increased breast cancer susceptibility.
|
26850117 |
2016 |
|
rs2881766
|
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
The results showed that ESR1 rs2881766 polymorphism increased breast cancer risk and rs3798377 decreased the risk in Korean women.
|
25323936 |
2015 |
|
rs1801132
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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 |
|
rs2228480
|
|
Breast Carcinoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
Three SNPs of the ESR1 gene, rs2077647:T>C, rs2228480:G>A and rs3798577:T>C, were not associated with increased BC risk in our overall meta-analysis.
|
27070141 |
2016 |
|
rs2228480
|
|
Breast Carcinoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
Breast cancer risk was significantly associated with three SNPs located at 6q25.1-rs9383935 in CCDC170 and rs2228480 and rs3798758 in ESR1-with variant allele attributed odds ratios (ORs) of 1.38 (95% confidence interval (CI): 1.20 to 1.57, P=2.21×10(-6)), 0.84 (95% CI: 0.72 to 0.98, P=0.025) and 1.19 (95% CI: 1.04 to 1.37, P=0.013), respectively.
|
25116933 |
2014 |
|
rs2228480
|
|
Breast Carcinoma
|
|
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 |