|
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 |
|
rs796065354
|
|
Malignant neoplasm of breast
|
G |
0.760 |
SusceptibilityMutation
|
CLINVAR |
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 |
|
rs796065354
|
|
Malignant neoplasm of breast
|
|
0.760 |
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 |
|
rs796065354
|
|
Malignant neoplasm of breast
|
G |
0.760 |
SusceptibilityMutation
|
CLINVAR |
A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions.
|
10945602 |
2000 |