Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE In a large multiethnic case-control study, the G/A870 polymorphism conferred no significant risk for breast cancer overall or by stage or estrogen receptor (ER) status. 19287456

2009

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE A plethora of studies have reported the detection of estrogen receptor mRNA splice variants, and it has been suggested that the accumulation of these variant mRNAs are responsible for the development of tamoxifen-resistant breast cancer. 9393947

1997

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Reproductive factors, particularly parity, have differential effects on breast cancer risk according to estrogen receptor (ER) status, especially among African American (AA) women. 28756535

2017

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE According to the selected cutoff, ESR1 mutations occurred in 7 (2.5%) of 270 primary breast cancer specimens and in 11 (20%) of 55 ER+ MBC specimens. 26434753

2015

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Thus, our results provide evidence that ESR-α polymorphisms are associated with susceptibility to breast cancer. 24377599

2014

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. 20661439

2010

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE The D327N mutation of human SHBG is associated with a number of good prognostic factors in breast cancer like estrogen receptor positivity and erb2 negativity. 15008248

2003

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Furthermore, we showed that ADA3 is predominantly nuclear in mammary epithelium, and in ER+, but is cytoplasmic in ER- breast cancers, the latter correlating with poor survival. 27852327

2016

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Examples are emerging, however, including targeting HER2 in HER2 mutant breast cancer and mutant ESR1 in ESR1 endocrine refractory luminal-type breast cancer. 25606588

2014

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Given that endometrial cancer shares many risk factors with breast cancer and both are related to estrogen exposure and that rs2046210 is in close proximity to the ESR1 gene, we evaluated the association of SNP rs2046210 with endometrial cancer risk among 953 cases and 947 controls in a population-based, case-control study conducted in Shanghai, China. 21272446

2011

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Furthermore, on performing stratified analysis between breast cancer risk and different clinicopathological characteristics, we observed strong associations for menopausal status, estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) status, clinical stage, and histological grade. 24430361

2014

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Lifetime leisure-time MVPA appeared to be associated with reduced risk of ER-/PR-/HER2- breast cancers and lifetime household MVPA was associated with reduced risk of ER+ and/or PR+ breast cancer, regardless of HER2 status. 28589367

2017

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE We have investigated the potential link between three tandem repeats (CAG, TA, and CA) in the AR, ERs alpha and beta genes, respectively, and breast cancer. 16791593

2006

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Alcohol intake was positively associated with overall BC risk and specifically with estrogen receptor-positive tumors with respectively TE = 1.17(95%CI: 1.01,1.35) and 1.36(1.08,1.70) for a 1-standard deviation (1-SD) increase of intake. 30968961

2020

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Additionally, the methylation pattern of the estrogen-receptor gene (6q24-27), whose protein product is increased in numerous breast cancers, also did not change. 8239493

1993

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk. 22199302

2011

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE We report that the Cav-1 P132L mutation is present in approximately 19% of estrogen receptor alpha (ERalpha)-positive breast cancers but not in ERalpha-negative breast cancers. 16723714

2006

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Approximately, 15% of breast cancers are triple-negative for estrogen receptor, progesterone receptor, and HER2. 28108260

2017

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Our results suggest that the ESR1 polymorphisms do not play a role in breast cancer risk in Caucasian postmenopausal women. 17453340

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Checking on women with high breast density after menopause, the frequency of the Pvull and Xbal polymorphisms of the ERα gene and the correlation between them and the known risk factors for breast cancer. 23741969

2013

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Synchronous bilateral breast cancers frequently share the same estrogen receptor (ER) status, yet may differ in other histopathologic features. 26340863

2016

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Genetic susceptibility loci for breast cancer by estrogen receptor status. 19088016

2008

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE Association of PvuII and XbaI polymorphisms on estrogen receptor alpha (ESR1) gene to changes into serum lipid profile of post-menopausal women: Effects of aging, body mass index and breast cancer incidence. 28199328

2017

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE None of the three vitamin D-related pathways were associated with breast cancer risk overall or by ER status. 26650177

2016

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation BEFREE To gain an insight into the factors that may be responsible for their aggressive tumors, we investigated the transcript profiles of the estrogen receptor (ER), the most important prognostic factor in breast cancer, in the tumors derived from African American women. 10815765

2000