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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 GeneticVariation phenotype BEFREE ESR1 mutations were absent in PT tissue samples and were detected only in metastases obtained after CTC characterization. 31669227 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Recent investigations of ER imaging with <sup>18</sup>F-fluoroestradiol (<sup>18</sup>F-FES) have focused on diagnosing ER+ metastatic disease, optimizing ER-targeted drug dosage, and predicting endocrine therapy benefit. 31732674 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE The absence of ER in breast cancer before and after NAC would be a significant prognostic factor for local recurrence and distant metastasis. 31204155 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression phenotype BEFREE The expression of carbonic anhydrase XII (CA12) is associated with the expression of estrogen receptor alpha (ERα) in breast cancer and is linked to a good prognosis with a lower risk of metastasis. 31636386 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE miR-4324-RACGAP1-STAT3-ESR1 feedback loop inhibits proliferation and metastasis of bladder cancer. 30511377 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE The first tumors of sCBC were more likely to have higher stage and more lymph and distant metastases, whereas those of mCBC were more often infiltrating ductal carcinoma (IDC), had localized stage, were estrogen receptor (ER) and progesterone receptor (PR) negative, and had less axillary nodal involvement. 31281731 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE The distinct membrane-immunopositivity was correlated with high HG, severe nuclear pleomorphism, frequent mitotic counts, high Ki-67 labeling index, HER2/neu overexpression, and low estrogen receptor status (P < 0.05), but not with tubular formation, pT categories, node metastasis, vessel permeation, and pStage. 31728728 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 GeneticVariation phenotype BEFREE Approximately 30% of ERα breast cancer patients relapse with metastatic disease following adjuvant endocrine therapies. 31073170 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 GeneticVariation phenotype BEFREE Furthermore, ESR1 mutations express a unique transcriptional profile that favors tumor progression, suggesting that selected ESR1 mutations may influence metastasis. 31318440 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 GeneticVariation phenotype BEFREE Association of <i>ESR1</i> Mutations and Visceral Metastasis in Patients with Estrogen Receptor-Positive Advanced Breast Cancer from Brazil. 31511774 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE This feasibility study showed that <sup>18</sup>[F]-fluorodeoxyglucose (<sup>18</sup>F-FDG) positron emission tomography/computed tomography (PET/CT) could accurately predict nodal response after neoadjuvant chemotherapy (NAC) among patients with breast cancer with initial nodal metastasis except in estrogen receptor-negative, human epidermal growth factor receptor 2-positive subtype. 31826976 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Multivariable Cox proportional hazards analysis showed that a higher ADC difference value (>0.698 × 10<sup>-3</sup> mm<sup>2</sup>/sec) (hazard ratio [HR], 4.5; 95% confidence interval [CI]: 2.0, 10.0; <i>P</i> < .001), presence of axillary node metastasis (HR, 3.3; 95% CI: 1.2, 9.3; <i>P</i> = .02), and estrogen receptor negativity (HR, 2.6; 95% CI: 1.2, 5.7; <i>P</i> = .02) were associated with poorer distant metastasis-free survival. 30860453 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE The aim of the present study was to analyze metastasized breast cancer (BC) patients with regard to the discordance of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2). 31092464 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression phenotype BEFREE MiR-22 downregulated the expression of NK1R-Tr and ERα to delay and weaken phosphorylation of ERK1/2 to inhibit proliferation and metastasis of breast cancer cells. 30502362 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE A 72-year-old woman with estrogen receptor-negative human epidermal growth factor 2-positive breast cancer with distant metastases in the lung was admitted. 31842789 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE But the exact molecular mechanism of ERα-36 and STAT3 on metastasis is still not fully understood. 31409371 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Whereas ESR1 alterations are enriched in the metastases of both ILC and IDC compared with breast specimens, NF1 alterations are enriched only in ILC metastases (mILC). 30423024 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Using both GATA3 and SOX10 is recommended for confirming breast as the site of origin in metastases that lack estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 expression, whereas the addition of AR is not helpful. 30468800 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Increased leptin, which upregulates estrogen receptor alpha (ERα) and aromatase, enhances estrogen bioavailability and signaling in estrogen receptor positive (ER⁺) breast cancer (BC) tumor growth and metastasis. 30897853 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE In addition, STC2 gene probably promotes the development and metastasis of breast cancer by interacting with estrogen and ER, and it may become a new direction for breast cancer endocrine therapy. 31845230 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression phenotype BEFREE Furthermore, the double-positive expression of immunoreactive estrogen receptor (ER) β and p53 proteins is closely associated with the incidence of metastasis and/or recurrence. 31689961 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression phenotype BEFREE Melatonin mitigates cancer initiation, progression and metastasis through inhibition of both the synthesis of estrogens and the transcriptional activity of the estradiol-ER (Estrogen receptor) complex in the estrogen-dependent breast cancer cell line MCF-7. 31331001 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 GeneticVariation phenotype BEFREE The TIL distributions were significantly associated with nodal metastasis (P=0.004), ER status (P=0.045), progesterone receptor (PgR) status (P=0.002), tumor grade (P=0.021), and the Ki67 labeling index (LI) (P=0.002) in the no recurrence group and with the Ki67 LI in the recurrence groups (P=0.002 in early recurrence group, P=0.023 in late recurrence group). 30675282 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 GeneticVariation phenotype BEFREE These questions have provoked new mechanistic hypotheses that link resistance to endocrine agents to: (1) Specific defects in single strand break repair are associated with increased mortality from ER+ breast cancer [1,2]; (2) Loss/mutations of certain single strand break repair proteins that disrupt estrogen-regulated cell cycle control through the ATM, CHK2, CDK4 axis [1,2] thereby directly coupling endocrine therapy resistance to specific DNA repair defects; (3) Acquired mutations that drive metastasis include the generation of in-frame ESR1 gene fusions that activate epithelial-to-mesenchymal transition (EMT) driven metastasis as well as endocrine drug-resistant proliferation [3]. 31839155 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 Biomarker phenotype BEFREE Because estrogen receptor-α (ERα) is expressed in ~70% of patients, therapeutic intervention by ERα-targeted endocrine therapies remains the leading strategy to prevent progression and/or metastasis in the adjuvant setting. 30753408 2019