ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Endocrine therapy (ET) is the standard of care for estrogen receptor-positive (ER<sup>+</sup>) breast cancers. 31269432 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Stratified analyses showed that genetically predicted fasting insulin was more closely related to risk of estrogen-receptor [ER]-positive cancer, whereas the associations with instruments of 2-h glucose, BMI and WHRadj BMI were consistent regardless of age, menopausal status, estrogen receptor status and family history of breast cancer. 30277539 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Tumor HIF-1α-positivity correlated to increased breast cancer mortality, and negative prognostic factors including low age at diagnosis and ER-negativity. 31821370 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Our findings provide further evidence for the distinct etiological pathways in ER-negative and ER-positive breast cancers. 30956778 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 AlteredExpression disease BEFREE The aim of this study was to examine the value of the distribution pattern of ERα expression, ESR1 SNPs as well as ESR1 mRNA expression in predicting tamoxifen response and survival in patients with luminal-A-like and luminal-B-like breast cancer. 31562548 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 AlteredExpression disease BEFREE Estrogen receptor α (ERα) is the major driving transcription factor in the mammary gland development as well as breast cancer initiation and progression. 31408468 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Breast cancer brain metastases (BM) affect younger women disproportionally, including those lacking estrogen receptor (ER), progesterone receptor, and HER2 (known as triple-negative breast cancer; TNBC). 30796353 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE The majority of BCa cases are positive (+) for the estrogen receptor (ER<sup>+</sup>, 80%) and progesterone receptor (PR<sup>+</sup>, 65%). 30821186 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE The androgen receptor (AR) is present in most breast cancers (BC), but its exploitation as a therapeutic target has been limited.This study explored the activity of dehydroepiandrosterone (DHEA), a precursor being transformed into androgens within BC cells, in combination with an aromatase inhibitor (to block DHEA conversion into estrogens), in a two-stage phase II study in patients with AR-positive/estrogen receptor-positive/human epidermal growth receptor 2-negative metastatic BC.Although well tolerated, only 1 of 12 patients obtained a prolonged clinical benefit, and the study was closed after its first stage for poor activity. 30591548 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE The estrogen receptor-alpha S118P variant does not affect breast cancer incidence or response to endocrine therapies. 30560461 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Cadmium is an environmental contaminant that can activate estrogen receptor alpha (ERα) and contribute to the development and progression of breast cancer. 31431634 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE After adjusting for age, T stage, N stage, pathological grade, perioperational chemotherapy, adjuvant radiotherapy, estrogen receptor positivity, progesterone receptor positivity, human epidermal growth factor receptor-2 positivity, and high Ki-67 (>10%), a positive adjusted HMG-CoAR IHC score was also associated with shorter DFS (hazard ratio = 2.638, 95% confidence interval [CI] 1.112-6.262, P = .028).The expression of HMG-CoAR might be an independent prognostic factor in breast cancer. 30921201 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE In this study, ESR1 mutations in breast cancer were identified utilizing Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT), a Food and Drug Administration-approved hybridization capture-based next-generation sequencing assay. 30158597 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 AlteredExpression disease BEFREE Statistical analysis showed that the high expression of CA12 in breast cancer tissue was related to estrogen receptor expression level (P<0.001). 30784287 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Hormone therapy has been used for patients with estrogen receptor alpha (ERα)-positive breast cancers. 30736096 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE This is the first report showing ER positivity in breast cancer in carriers of STK11 variants and needs confirmation in a larger pooled cohort of PJS associated breast cancers. 30689838 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE MiR-190b had reduced promoter methylation in estrogen receptor-positive breast cancers (<i>P =</i> 1.02e-12, Median values: ER+ 24.3, ER- 38.26) and miR-190b's expression was up-regulated in a correlative manner (<i>P =</i> 1.83e-06, Spearman's rho -0.62). 31384394 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE To identify biologic and outcome differences between double hormone receptor (HR)-positive (dHR<sup>+</sup>, estrogen receptor (ER)<sup>+</sup>/progesterone receptor [PgR<sup>+</sup>]) and single HR-positive (sHR<sup>+</sup>, either ER<sup>+</sup>/PgR<sup>-</sup> or ER<sup>-</sup>/PgR<sup>+</sup>) breast cancer; and to explore whether hormone therapy (HT) response in HER2-negative breast cancer correlates with HR status. 31551181 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE The majority of women had Estrogen receptor/Progesterone receptor (ER/PR) positive/Her2neu negative (n = 37; 63%), stage I (n = 32, 54%) or II (n = 19, 32%) breast cancer. 31811486 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Numerous studies have shown that tamoxifen has a significant therapeutic effect on both primary and metastatic ER-positive BC patients. 31281726 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Estimating distant recurrence risk in women with estrogen receptor-positive, human epidermal growth factor receptor 2 (HER2)-negative early breast cancer is still challenging. 30591472 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE In the entire group and in ER- BCs, CD8+ TILs were associated with favorable distant metastasis-free survival (p=0.021, p<0.001, respectively), disease-free survival (p=0.022, p<0.001, respectively) and breast cancer specific survival (BCSS) (p=0.022, p=0.005). 30842152 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE The role of diet in breast cancer aetiology is unclear; recent studies have suggested associations may differ by estrogen receptor status. 30412247 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Our results suggested that the DII scores are positively associated with breast cancer risk in Korean women and that this relationship is more robust in ER+/PR+ tumors. 31430979 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE A further docking study of these compounds with ERα elucidates their structure-activity relationships, which provides guidance to design new PROTAC degrons targeting ER for breast cancer therapy. 30939353 2019