|
rs139960913
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs2228480
|
|
|
0.060 |
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 |
|
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 |
|
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 |
|
rs2234693
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, the haplogenotypes CTAG and CCGG of rs2234693 and rs9340799 polymorphisms could contribute significantly to the susceptibility of risk in BC positive at miscarriage and tobacco consumption in this sample population.
|
31786857 |
2020 |
|
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 |
|
rs796065354
|
|
G |
0.760 |
SusceptibilityMutation |
CLINVAR |
A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions.
|
10945602 |
2000 |
|
rs9383938
|
|
T |
0.720 |
GeneticVariation |
GWASDB |
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
|
22976474 |
2012 |
|
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 |
|
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 |
|
rs796065354
|
|
G |
0.760 |
SusceptibilityMutation |
CLINVAR |
A population-based case-control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for presence of the ER-α A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA sequencing.
|
23236557 |
2013 |
|
rs767863538
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A three-member fingerprint of S100P-correlated genes, consisting of GPRC5A, FXYD3, and PYCARD, conferred poor outcome in multiple breast cancer data sets, irrespective of estrogen receptor status but dependent on tumor size (P < 0.01).
|
19789341 |
2009 |
|
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 |
|
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 |
|
rs762292600
|
|
|
0.020 |
GeneticVariation |
BEFREE |
AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients.
|
29086897 |
2018 |
|
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 |
|
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 |
|
rs796065354
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Collectively, these data demonstrate an important role for the K303R ERalpha mutation in hormonal regulation of tumor growth and estrogen-regulated promoter dynamics in human breast cancer.
|
19842032 |
2010 |
|
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 |
|
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 |
|
rs9340799
|
|
|
0.070 |
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 |
|
rs2234693
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ESR1 rs3798577 and ESR2 rs1256049 were associated with breast cancer in ER-positive cases, and ESR1 rs2234693, and rs3798577 were associated with breast cancer in Her-2-negative cases, while the association of ESR2 rs1256049 with breast cancer was seen in Her-2 positive cases.
|
29414691 |
2018 |
|
rs2077647
|
|
|
0.030 |
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 |
|
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 |
|
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 |