Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation BEFREE Subsequent comparison between 20 carcinomas using AFM220xe5, with and without LOH in terms of pathological parameters showed significant associations with differences in age (P = 0.04) ER (P = 0.05) Ki-67 (P = 0.04) and PR (P = 0.01) a trend toward significance was found for tumor size (P = 0.06) and histological grade III (P = 0.06). 15183540

2004

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation BEFREE The present study suggests that rs2077647 polymorphism may be a risk factor for prostate cancer especially in patients diagnosed before the age of 60, while rs3798577 polymorphism could probably serve rather as promoting factor in combination with other polymorphisms in estrogen receptor alpha contributing preferably to development of high-grade carcinomas. 25828708

2015

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation BEFREE An analysis of tamoxifen-stimulated human carcinomas for mutations in the AF-2 region of the estrogen receptor. 8918973

1996

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation BEFREE The majority of spontaneous and DMBA-induced carcinomas and sarcomas from p53(R270H/+)WAPCre mice is estrogen receptor alpha positive, and expression profiles of genes also implicated in human breast cancer appear similarly altered. 16166291

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation BEFREE The fact that the mutation was not found leads us to believe that this mutation is absent from most cells in invasive carcinomas and furthermore that the major expression product of the ER-alpha gene in cancers does not contain the K303R mutation. 15642159

2005

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation BEFREE Aim of this study is to identify miRNAs that are differentially expressed in estrogen receptor positive (ER(+)) and negative (ER(-)) breast primary tumors to better understand the molecular basis for the phenotypic differences between these two sub-types of carcinomas and to find potential clinically relevant miRNAs. 26141719

2015

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 GeneticVariation BEFREE Truncating Prolactin Receptor Mutations Promote Tumor Growth in Murine Estrogen Receptor-Alpha Mammary Carcinomas. 27681435

2016

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE High MYC amplification was seen in grade III carcinomas (MYC: CEP8 = 2.42), pre-menopausal women (MYC: CEP8 = 2.49), PR-negative status (MYC: CEP8 = 2.42), and ER-positive status (MYC: CEP8 = 2.4). 29523126

2018

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE A common characteristic of mammary carcinomas is an inverse relationship between the estrogen receptor (ER) status and the proliferative activity of the tumor. 17317819

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE Here, we evaluate telomere lengths within 48 primary ILCs with complete characterization of estrogen receptor (ER), progesterone receptor (PR), and Her2 status, including 32 luminal/Her2- (ER+/PR+/Her2-), 8 luminal/Her2+ (ER+/PR+/Her2+), 3 Her2+ (ER-/PR-/Her2+), and 5 triple-negative (ER-/PR-/Her2-) carcinomas. 26092192

2015

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE Collectively, these findings demonstrate that the expression of KAI1 is maintained during progression to metastasis in a large proportion of ER-negative mammary carcinomas. 19549254

2009

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE These results indicate that Akt3 may contribute to the more aggressive clinical phenotype of the estrogen receptor-negative breast cancers and androgen-insensitive prostate carcinomas. 10419456

1999

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE Infiltrating lobular carcinoma had a higher ER positivity between groups (85.7%), whereas noninvasive carcinomas had a higher PR positivity (67%). 26266392

2015

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE DNA aptamer probes for detection of estrogen receptor α positive carcinomas. 28087261

2017

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE Carcinomas without overt cytoplasmic mucin (endometrioid, usual-type endocervical, clear cell, and mesonephric carcinomas) can be subclassified using HR-HPV ISH, ER, and GATA3, whereas carcinomas with easily appreciated cytoplasmic mucin (endometrioid carcinoma with mucinous features, HPVA mucinous, and gastric-type carcinomas) can be subclassified with HR-HPV ISH and ER. 29851704

2018

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE Eighteen of 58 (31%) carcinomas were estrogen receptor positive and 22 (38%) were positive for progesterone receptor. 7919121

1994

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE All of the Sox10<sup>+</sup> tumors were ER<sup>-</sup>, such that 71% of ER<sup>-</sup> carcinomas were Sox10<sup>+</sup> in comparison to 0% of ER<sup>+</sup> carcinomas (P=0.049). 28843711

2017

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE The expression of ER-beta was examined immunohistochemically in 48 apocrine carcinomas and compared with clinicopathological factors and ER-alpha, PR and AR status. 17448017

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE Moreover, estrogen receptor-negative carcinomas revealed LOH of BRCA1 more frequently than estrogen receptor-positive carcinomas (39%: 12%; p=0.003). 20944121

2010

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE Of the carcinomas, 9.6 % (26/301) showed ESR1 gain (1.3 ≤ ratio ESR1/chromosome 6 < 2) by FISH and 10 % (24/299) by CISH. 24756215

2014

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE High level expression is seen in half of serous carcinomas and a subset of serous carcinomas and carcinosarcomas show some degree of AR staining in the absence of ER, suggesting a possible role for androgen inhibition in treatment of these cases. 28582344

2018

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE Stat1 gene-targeted knockout mice (129S6/SvEvTac-Stat1 <sup>tm1Rds</sup>) develop estrogen receptor-positive (ER<sup>+</sup>), luminal-type mammary carcinomas at an advanced age. 28865492

2017

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE Somatic loss of both BRCA1 and p53 resulted in the rapid and efficient formation of highly proliferative, poorly differentiated, estrogen receptor-negative mammary carcinomas with pushing borders and increased expression of basal epithelial markers, reminiscent of human basal-like breast cancer. 17626182

2007

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE We identified 541 patients with breast cancer recurrence with estrogen receptor-positive disease who were treated with tamoxifen for at least 1 year (ER+/TAM+) and 300 with estrogen receptor-negative carcinomas, not treated with tamoxifen, and who survived at least 1 year (ER-/TAM-). 30351173

2019

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.400 Biomarker BEFREE We applied comparative genomic hybridization (CGH) to analyze 105 primary breast carcinomas using histograms to indicate the incidence of DNA imbalances of tumor subgroups and difference histograms to compare invasive ductal carcinomas (IDC) with lobular carcinomas (ILC), well and poorly differentiated carcinomas (G1/G3) and estrogen receptor-positive and -negative tumors (ER(+)/ER(-)). 10861509

2000