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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE A SERD- or SSH-palbociclib combination has therapeutic potential in breast tumors resistant to endocrine therapies or those expressing ESR1 mutations. 25991817 2015
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE A similar magnitude suggestive association, although nonstatistically significant, was found between Val(80) polymorphism and estrogen receptor-negative status of the breast tumors. 19366906 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE A total of 499 estrogen receptor-positive primary breast tumor specimens of advanced disease patients treated with first-line tamoxifen were genotyped for CYP2C19*2 and *17 variant alleles, with primary end point time-to-treatment failure (TTF). 21830868 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE A tumor microarray of 94 estrogen receptor-positive human breast tumors correlated coexpression of MUC1 and IFITM1 with poor recurrence-free survival, poor overall survival, and AI-resistance. 30655323 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression group BEFREE ABCC11 expression is regulated by estrogen in MCF7 cells, correlated with estrogen receptor alpha expression in postmenopausal breast tumors and overexpressed in tamoxifen-resistant breast cancer cells. 18310281 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression group BEFREE About 70% of breast tumors express estrogen receptor alpha (ERα), which mediates the proliferative effects of estrogens on breast epithelial cells, and are candidates for treatment with antiestrogens, steroidal or non-steroidal molecules designed to compete with estrogens and antagonize ERs. 27729460 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression group BEFREE About 75-80% of breast tumors express the estrogen receptor alpha (ER-α) and are treated with endocrine-target therapeutics, making this the premier therapeutic modality in the breast cancer clinic. 28320353 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE Accurate Estrogen Receptor Quantification in Patients with Negative and Low-Positive Estrogen-Receptor-Expressing Breast Tumors: Sub-Analyses of Data from Two Clinical Studies. 30859501 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE Acetylation additionally increased the stability of p68 and p72 RNA helicase and stimulated their ability to coactivate the estrogen receptor, thereby potentially contributing to its aberrant activation in breast tumors. 20663877 2010
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 CausalMutation group CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510 2013
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group CTD_human Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510 2013
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510 2013
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Activating mutations of PIK3CA are the most frequent genomic alterations in estrogen receptor (ER)-positive breast tumors, and selective phosphatidylinositol 3-kinase α (PI3Kα) inhibitors are in clinical development. 25877889 2015
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE Activation of mitogen-activated protein kinase in estrogen receptor alpha-positive breast cancer cells in vitro induces an in vivo molecular phenotype of estrogen receptor alpha-negative human breast tumors. 16585219 2006
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN Active and passive smoking, IL6, ESR1, and breast cancer risk. 17594514 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE Additionally, we found elevated binding of the estrogen receptor (ER) in H-ras ER element in all pairs of ovarian tumor/normal tissue tested, whereas in ER-negative control breast tumor/normal tissue pairs, no differences in ER DNA-binding levels were observed. 8878453 1996
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE Aggressive, basal-like, ER-negative breast tumors occur in younger women, African-American women, women who carry BRCA1 mutation, and women exposed to ionizing radiation. 23325583 2013
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression group BEFREE AGR3 expression in breast tumours is significantly associated with oestrogen receptor α (P<0.001) and lower tumour grade (P<0.01). 25875093 2015
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE AIB1 and CCND1 amplifications may, thus, represent two different subsets of ER-positive breast tumors. 9865902 1998
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression group BEFREE All anti-estrogen treated breast tumors lost the estrogen receptor expression in the brain metastases, whereas no Her2/neu conversions occurred after treatment with trastuzumab. 28870906 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE Also, the amount of immunostained nuclei for RelB (P = 0.025) and NFkB1 (P = 0.031) was higher in ER- breast tumors versus ER+ breast tumors. 16740744 2006
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression group BEFREE Also, the overexpression of miR-34b inhibited ER+ breast tumor growth in an orthotopic mammary fat pad xenograft mouse model. 22113133 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Alterations in the estrogen receptor alpha mRNA in the breast tumors of African American women. 10815765 2000
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression group BEFREE Altered expression of estrogen receptor-alpha variant messenger RNAs between adjacent normal breast and breast tumor tissues. 11400682 2000
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE Although tamoxifen treatment is associated with improved survival in patients with estrogen receptor (ER)-positive breast tumors, resistance remains an important clinical obstacle. 20689759 2010