Estrogen Receptor Beta (ESR2) Polymorphisms in Familial and Sporadic Breast Cancer

Maguire, Pierce; Margolin, Sara; Skoglund, Johanna; Sun, Xiao Feng; Gustafsson, Jan Åke; Børresen-Dale, Anne Lise; Lindblom, Annika

doi:10.1007/s10549-005-7697-7

Cited by 54 publications

(42 citation statements)

References 35 publications

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“…Polymorphisms or haplotypes in ESR2 have been associated with an increased risk for a number of estrogen-related disorders, including osteoporosis [47,48,49,50,51], breast cancer, ovarian cancer [52,53,54,55,56,57,58,59,60] and polycystic ovarian disease [61]. ER-β is found in high concentrations in the hippocampus [51], and its activation has been linked to synaptic plasticity and hippocampal-dependent cognition [13,62].…”

Section: Discussionmentioning

confidence: 99%

Estrogen Receptor-Beta Variants Are Associated with Increased Risk of Alzheimer’s Disease in Women with Down Syndrome

Zhao¹,

Lee²,

Pang

et al. 2011

Dement Geriatr Cogn Disord

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Background/Aims: Genetic variants that affect estrogen activity may influence the risk of Alzheimer’s disease (AD). We examined the relation of polymorphisms in the gene for the estrogen receptor-beta (ESR2) to the risk of AD in women with Down syndrome. Methods: Two hundred and forty-nine women with Down syndrome, 31–70 years of age and nondemented at baseline, were followed at 14- to 18-month intervals for 4 years. Women were genotyped for 13 single-nucleotide polymorphisms (SNPs) in the ESR2 gene, and their association with AD incidence was examined. Results: Among postmenopausal women, we found a 2-fold increase in the risk of AD for women carrying 1 or 2 copies of the minor allele at 3 SNPs in introns seven (rs17766755) and six (rs4365213 and rs12435857) and 1 SNP in intron eight (rs4986938) of ESR2. Conclusion: These findings support a role for estrogen and its major brain receptors in modulating susceptibility to AD in women.

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Section: Discussionmentioning

confidence: 99%

Estrogen Receptor-Beta Variants Are Associated with Increased Risk of Alzheimer’s Disease in Women with Down Syndrome

Zhao¹,

Lee²,

Pang

et al. 2011

Dement Geriatr Cogn Disord

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“…Zheng et al identified 2 ESR2 SNPs associated with increased breast cancer risk in postmenopausal but not in premenopausal women (12). A recent study of 3 ESR2 SNPs found no association of the individual SNPs, but 1 haplotype of these SNPs was identified that was associated with an increased risk of sporadic breast cancer (13). Further analysis of the functional consequences of SNPs for ESR1 and ESR2 and association of SNPs in particular subject study groups, as well as identification of novel SNPs, may shed further light on the hereditary contributions to the development of breast cancer.…”

Section: Ers and Cancer Breast Cancer Estrogen Is Implicated In The mentioning

confidence: 98%

Estrogen receptors and human disease

Deroo

Korach²

2006

Journal of Clinical Investigation

1,132

803

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Estrogens influence many physiological processes in mammals, including but not limited to reproduction, cardiovascular health, bone integrity, cognition, and behavior. Given this widespread role for estrogen in human physiology, it is not surprising that estrogen is also implicated in the development or progression of numerous diseases, which include but are not limited to various types of cancer (breast, ovarian, colorectal, prostate, endometrial), osteoporosis, neurodegenerative diseases, cardiovascular disease, insulin resistance, lupus erythematosus, endometriosis, and obesity. In many of these diseases, estrogen mediates its effects through the estrogen receptor (ER), which serves as the basis for many therapeutic interventions. This Review will describe diseases in which estrogen, through the ER, plays a role in the development or severity of disease.

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“…Estrogen plays a central role in the normal development of the mammary gland but is also involved in breast cancer progression (3) .…”

Section: Introductionmentioning

confidence: 99%

Estrogen and Vitamin D Receptors Genes Polymorphisms in Breast Cancer Women

Ibrahim

Elsawy

Ibrahim

et al. 2014

Zagazig University Medical Journal

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Background: Estrogen receptor (ER) and vitamin D receptor (VDR) is a ligand-activated transcriptionfactor that mediates estrogen and vitamin D actions in target tissues. Several common polymorphisms of the ER-αgene and VDR gene have been reported to be associated with alterations in receptor expression and function. Objective: We evaluated the hypothesis that genetic polymorphisms in the PvuII restriction site of ER-α gene and FokI restriction site of VDR may be associated with breast cancer risk in Egyptian. Methods: In this study the involvement of two RFLPs, one at the ER-α gene locus, denoted as PvuII and the other at the VDR gene denotes as FokI in breast cancer were examined in 50 breast cancer cases and50 age frequency-matched controls. A case-control comparison was performed and the genotype distributions examined according to different tumor and population parameters. Result(s): PvuII polymorphism was associated with an increased risk of breast cancer (OR = 1.9 (0.75 5.0), P=0.01), while there was no significant difference in genotype frequency of the FokI polymorphism between controls and cases . In addition, significant association was found in patients with LN metastasis carrying the ER -α PvuII polymorphism. Also this study showed non-significant but generally higher relative risk of breast cancer for the f allele carriers of FokI polymorphism of Vitamin D receptors gene with breast cancer risk (OR =2,65(1.5-5.2) P=0.000). We did not find significant association between ERs gene PvuII res polymorphism and VDRs gene FokI polymorphism however there is significant association between the f allele and the p allele in cases (P=0.02). Conclusion(s): These results suggest that biomarkers for genetic polymorphisms could be used for the identification of breast cancer risk among Egyptian women.

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Estrogen Receptor Beta (ESR2) Polymorphisms in Familial and Sporadic Breast Cancer

Cited by 54 publications

References 35 publications

Estrogen Receptor-Beta Variants Are Associated with Increased Risk of Alzheimer’s Disease in Women with Down Syndrome

Estrogen Receptor-Beta Variants Are Associated with Increased Risk of Alzheimer’s Disease in Women with Down Syndrome

Estrogen receptors and human disease

Estrogen and Vitamin D Receptors Genes Polymorphisms in Breast Cancer Women

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