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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 GeneticVariation group BEFREE Compared to age-matched postmenopausal controls, the ER-alpha/beta ratio was reduced in both grade I adenocarcinoma and MMMT specimens (3.3 and 6.8, respectively), due to a selective loss of ER-alpha. 11687977 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE Combining 4 genes (CALCA, DAPK, ESR1 and APC) yielded a sensitivity of 89% (with all adenocarcinomas identified), equal to cytomorphology (89%) and high-risk human papilloma virus (Hr-HPV; 90%). 16736496 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE Human adenocarcinoma cells that are either estrogen-receptor positive (such as MCF-7) or estrogen-receptor negative (such as MDA-MB-468) were used as our model system. 9848511 1998
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 PosttranslationalModification group BEFREE Comparison of methylation in adenocarcinoma cell lines and tumors versus non-tumor lung tissue showed methylation of ESR1, PGR1 and RASSF1 to be significantly elevated in adenocarcinoma, with RASSF1 being most significant (P=0.0002). 15639718 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE In Borrmann IV gastric carcinoma ER positive rate was greater than that in other pathologic types, and in poorly differentiated adenocarcinoma and signet ring cell carcinoma the positive rates were greater than those in other histological types of both males and females (P<0.05). 12679906 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group BEFREE Such EGFR mutations are frequently found in adenocarcinoma with a strong expression of estrogen receptor (ER) beta, which has been shown to correlate with a favorable prognosis for the patients with EGFR mutations. 20615575 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE Some studies have shown that activation of estrogen and estrogen receptor α or β (ERα/β) promote adenocarcinoma. 25692143 2015
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE Immunhistochemistry profiling of human endometrial cancer tissue biopsies identified epithelial cells co-expressing ERβ5 and ERα in stage I endometrial adenocarcinomas and post menopausal endometrium. 31778358 2020
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE Using a script written in R, the diagnostic accuracy of all possible combinations of markers was evaluated and it was shown that a 3 marker panel including vimentin, ER, or PR, and an HPV marker (p16, ProExC, or HPV ISH) is optimal for determining site of origin for usual endometrial and endocervical adenocarcinomas. 20534993 2010
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE We have introduced the human estrogen receptor (ER) gene into HeLa cells, a human adenocarcinoma cell line of uterine origin, by infection. 1682189 1991
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE We examined this interplay and response to mTOR inhibition using ERα+ adenocarcinomas from NRL-PRL females in combination with Col1a1<sup>tmJae/+</sup> (mCol1a1) mice, which accumulate collagen-I around growing tumors. 29935374 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group BEFREE In addition, intracellular hK4 levels, as detected on Western blot analysis, were induced by 100 nM estrogen treatment of the estrogen receptor positive ovarian carcinoma cell line OVCAR-3, >8-24 h. Our results show that the level of KLK4 expression and expression of KLK4 mRNA variants are associated with progression of ovarian cancer, particularly late stage SER adenocarcinomas. 11489814 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group BEFREE Immuno-histochemical examination of the expression of TRPM8 channels in human breast tissues revealed an over-expression of TRPM8 in breast adenocarcinomas, which is correlated with estrogen receptor positive (ER+) status of the tumours. 20482834 2010
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE Thus, we examined the expression of PGRMC1 and PGRMC2 mRNA by relative quantitative PCR (RelqPCR) and determined whether transcript levels correlate with age, breast cancer staging, estrogen receptor alpha (ERα) status, and other morphometric features routinely used during the pathological examination of breast ductal adenocarcinomas. 20655063 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group LHGDN Altered expression of estrogen receptor alpha and beta in advanced gastric adenocarcinoma: correlation with prothymosin alpha and clinicopathological parameters. 17046193 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE The most common breast cancer type was adenocarcinomas (59.1%) and half of the breast cancers were hormone sensitive, with estrogen receptor positive status in 10 of 19 tested and progesterone receptor positive status in 5 of 14 tested. 30087072 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE The objective was to characterize and associate the receptor reactivities of fibroblastic growth factor (FGF)-2, FGF-7, FGF-8, epidermal growth factor (EGF), α-actin and vimentin in relation to the androgen receptor (AR), α and β estrogen receptors (ERα and ERβ), and prolactin receptor in the prostate of elderly men showing low- and high-grade adenocarcinoma. 23362007 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group BEFREE Cervical adenocarcinomas are believed to lose estrogen response on the basis of no expression of a nuclear estrogen receptor such as ERα in clinical pathology. 30227306 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group BEFREE Most (90%) of the endometrial adenocarcinomas were positive for vimentin and estrogen receptor, all were negative for HPV, and 97% were negative for carcinoembryonic antigen. 23318908 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group BEFREE Estrogen receptor (ER) alpha is expressed at low levels in normal epithelia, and its expression is dramatically up-regulated as transformation progresses during mammary hyperplasia and adenocarcinoma development. 17108100 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group CTD_human Comparison of methylation in adenocarcinoma cell lines and tumors versus non-tumor lung tissue showed methylation of ESR1, PGR1 and RASSF1 to be significantly elevated in adenocarcinoma, with RASSF1 being most significant (P=0.0002). 15639718 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group BEFREE The results of this study show that bcl-2 is relatively highly expressed in proliferative (n = 11) and hyperplastic (n = 18) endometrium, with respective mean staining scores of 3.59 and 3.47 (scale, 0-4), but is significantly (P < 0.001) down-regulated in atypical hyperplasia (n = 11; score, 0.82), and adenocarcinoma (n = 34; score, 0.86). bcl-2 expression did not correlate with stage, grade, estrogen-receptor, or progesterone-receptor expression. 8729985 1996
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group BEFREE Coexpression index of estrogen receptor alpha mRNA isoforms in simple, complex hyperplasia without atypia, complex atypical hyperplasia and adenocarcinoma. 17561234 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 AlteredExpression group LHGDN [Profile of estrogen receptor alpha isoforms in endometrial adenocarcinoma]. 14674143 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.400 Biomarker group CTD_human ESR1 gene multiple copies were confirmed in 13/60 (21.6%) breast adenocarcinomas, but high amplification only in 8/13 (62.8%). 20458558 2011