|
rs1131692059
|
|
ESTROGEN RESISTANCE
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1131692059
|
|
ESTROGEN RESISTANCE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs1131692059
|
|
ESTROGEN RESISTANCE
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1999805
|
|
Bone Density
|
|
0.800 |
GeneticVariation
|
GWASDB |
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
|
19801982 |
2009 |
|
rs1999805
|
|
Bone Density
|
|
0.800 |
GeneticVariation
|
GWASDB |
New sequence variants associated with bone mineral density.
|
19079262 |
2009 |
|
rs1999805
|
|
Bone Density
|
C |
0.800 |
GeneticVariation
|
GWASCAT |
Multiple genetic loci for bone mineral density and fractures.
|
18445777 |
2008 |
|
rs1999805
|
|
Bone Density
|
C |
0.800 |
GeneticVariation
|
GWASDB |
Multiple genetic loci for bone mineral density and fractures.
|
18445777 |
2008 |
|
rs2504063
|
|
Bone Density
|
A |
0.800 |
GeneticVariation
|
GWASCAT |
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
|
19801982 |
2009 |
|
rs2504063
|
|
Bone Density
|
A |
0.800 |
GeneticVariation
|
GWASDB |
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
|
19801982 |
2009 |
|
rs2504063
|
|
Bone Density
|
|
0.800 |
GeneticVariation
|
GWASDB |
New sequence variants associated with bone mineral density.
|
19079262 |
2009 |
|
rs2941740
|
|
Bone Density
|
G |
0.800 |
GeneticVariation
|
GWASCAT |
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
|
19801982 |
2009 |
|
rs2941740
|
|
Bone Density
|
G |
0.800 |
GeneticVariation
|
GWASDB |
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
|
19801982 |
2009 |
|
rs3020333
|
|
Bone Density
|
A |
0.800 |
GeneticVariation
|
GWASCAT |
Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.
|
29304378 |
2018 |
|
rs3020333
|
|
Bone Density
|
|
0.800 |
GeneticVariation
|
GWASDB |
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
|
19801982 |
2009 |
|
rs397509428
|
|
ESTROGEN RESISTANCE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.
|
27754803 |
2017 |
|
rs397509428
|
|
ESTROGEN RESISTANCE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant.
|
23841731 |
2013 |
|
rs397509428
|
|
ESTROGEN RESISTANCE
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs796065354
|
|
Malignant neoplasm of breast
|
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 |
|
rs796065354
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
|
0.760 |
GeneticVariation
|
BEFREE |
Our data suggest that the K303R mutation and the S305 ERalpha residue may be a novel determinant of AI response in breast cancer, and blockade of S305 phosphorylation represents a new therapeutic strategy for treating tumors resistant to hormone therapy.
|
20101208 |
2010 |
|
rs796065354
|
|
Malignant neoplasm of breast
|
|
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 |
|
rs796065354
|
|
Malignant neoplasm of breast
|
|
0.760 |
GeneticVariation
|
BEFREE |
Indeed, a breast cancer-associated mutation at K303 (K303R) alters methylation at K302 in vitro and in vivo.
|
18471979 |
2008 |
|
rs796065354
|
|
Malignant neoplasm of breast
|
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
|
|
Malignant neoplasm of breast
|
|
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
|
|
Malignant neoplasm of breast
|
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 |