|
rs762292600
|
|
|
0.020 |
GeneticVariation |
BEFREE |
AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients.
|
29086897 |
2018 |
|
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 |
|
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 |
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 |
|
rs762292600
|
|
|
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 |
|
rs757200716
|
|
|
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 |
|
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 |
|
rs757200716
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
rs3778609
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These SNPs were in high LD (r<sup>2</sup> > 0.9) with each other, with the top SNP, rs3778609, associated with breast cancer with an odds ratio (OR) and 95% confidence interval (95% CI) of 0.76 (0.70-0.84).
|
30642363 |
2019 |
|
rs760503206
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Surveying a small set of CAFs from breast cancer</span> biopsies, we found that a relatively common single nucleotide polymorphism, which results in the expression of a GPER variant with the amino acid substitution P16L, is associated with the nuclear localization of GPER.
|
28596490 |
2017 |
|
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 |
|
rs523736
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For overall breast cancer risk, three single-nucleotide polymorphisms (SNPs) in miRNA biogenesis genes DROSHA rs78393591 (OR = 0.69, 95 % CI: 0.55-0.88, P = 0.003), ESR1 rs523736 (OR = 0.88, 95 % CI: 0.82-0.95, P = 3.99 × 10(-4)), and ZCCHC11 rs114101502 (OR = 1.33, 95 % CI: 1.11-1.59, P = 0.002), and one SNP in primary miRNA sequence (rs116159732 in miR-6826, OR = 0.74, 95 % CI: 0.63-0.89, P = 0.001) were found to have significant associations in both discovery and validation phases.
|
27380242 |
2016 |
|
rs9479118
|
|
|
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 |
|
rs2273206
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ESR1, rs2881766, rs2077647, rs926778, and rs2273206 polymorphisms increased breast cancer risk, and rs3798377 decreased the risk in overall patients.
|
25323936 |
2015 |
|
rs926778
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For the tumor subtypes, rs2881766 increased breast cancer risk manly in luminal A, HER2-overexpressing, and triple-negative subtypes except for luminal B subtype, and rs926778 increased the risk in luminal A and triple-negative subtypes.
|
25323936 |
2015 |
|
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 |
|
rs3798758
|
|
|
0.010 |
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 |
|
rs2747648
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of the study was to analyze the impact of the rs2747648 genetic variant in the estrogen receptor alpha (ER1) gene affecting a putative miR-453-binding site on the risk of breast cancer in postmenopausal women.
|
22012767 |
2012 |
|
rs747099645
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A DNA bank of patients with gynecologic oncology, patients with breast cancer (n = 335), and healthy women (n = 530) was created, and the following single-nucleotide polymorphisms were examined: CYP1A1 M1 polymorphism, that is, T264-C transition in the 30-noncoding region; CYP1A2*1F polymorphism, that is, C734-A transversion in the CYP1A2 gene; C-T transition (Arg264Cys) in exon 7 of CYP19; and SULT1A1*2 polymorphism, that is, G638-A transition (Arg213His) in the SULT1A1 gene.
|
21977969 |
2012 |
|
rs7766585
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Potential association to breast cancer was identified for 15 SNPs and one of these SNPs (rs7766585 in ESR1) was found to associate strongly with breast cancer, OR 1.30 (95% CI 1.17-1.45; p-value 2.1 × 10(-6)), when tested in a verification panel consisting of 3,211 unique breast cancer cases and 4,223 unique controls from five European biobank cohorts.
|
21105050 |
2011 |
|
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 |