Association of repeat polymorphisms in the estrogen receptors alpha, beta (ESR1, ESR2) and androgen receptor (AR) genes with the occurrence of breast cancer

Tsezou, Aspasia; Tzetis, Maria; Gennatas, Constantine; Giannatou, Eirini; Παμπάνος, Ανδρέας; Malamis, George; Kanavakis, Emmanouil; Kitsiou, Sofia

doi:10.1016/j.breast.2007.08.007

Cited by 32 publications

(36 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…However, the findings of several other studies examining the ESR1 SNPs with risks of breast cancer are inconsistent. Neither of Einarsdottir et al and Tsezou et al observed significant difference in the frequency distribution of corresponding ESR1 gene mutations between patients and controls and supported a strong association between variants in the ESR1 genes and breast cancer susceptibility, tumor characteristics or survival (Einarsdottir et al, 2008;Tsezou et al, 2008). It is notable that Jeon et al similarly came to the conclusion that no significant correlation existed between breast cancer risk and the genetic polymorphisms of ESR1, but when ESR1 P325P was analyzed together with CDK7, women carrying both the CDK7 TT and ESR1 P325P CC genotypes showed increased breast cancer risk (Jeon et al, 2010).…”

Section: Menopausal Status Modifies Breast Cancer Risk Associated Witmentioning

confidence: 95%

“…In the progress of breast carcinogenesis, ESR1 serves as a ligand-activated transcription factor and is capable of binding both endogenous and exogenous hormones in order to drive cell proliferation, control cell growth, program cell death and thus increase the opportunity of accumulation of genetic mutations that occur during breast cancer cell division (Zhang and Yu, 2007). Therefore, the ESR1 gene variants associated with higher ESR1 expression may be correlated with elevated susceptibility to breast cancer (Tsezou et al, 2008).…”

Section: Menopausal Status Modifies Breast Cancer Risk Associated Witmentioning

confidence: 99%

See 1 more Smart Citation

Menopausal Status Modifies Breast Cancer Risk Associated with ESR1 PvuII and XbaI Polymorphisms in Asian Women: a HuGE Review and Meta-analysis

Liu¹,

Xu²

2012

Asian Pacific Journal of Cancer Prevention

View full text Add to dashboard Cite

Background: Published data on the association between single nucleotide polymorphisms (SNPs) in the ESR1 gene and breast cancer susceptibility are inconclusive or controversial. The aim of this Human Genome Epidemiology (HuGE) review and meta-analysis was to derive a more precise estimation of this relationship. Methods: A literature search of Pubmed, Embase, Web of science and CBM databases was conducted from inception through September 1th, 2012. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association. Results: A total of five studies including 1,678 breast cancer cases and 1,678 general population controls in Asian populations were involved in this meta-analysis. When all the eligible studies were pooled into the meta-analysis, the higher transcriptional activity variant allele T of ESR1 PvuII (C>T) (rs2234693) in pre-menopausal breast cancer women showed a significant relation to increased risk (OR = 1.13, 95%CI: 1.01-1.28, P = 0.040) in contrast to their post-menopausal counterparts which showed non-significant increased risk (OR = 1.01, 95%CI: 0.87-1.18, P = 0.858). Nevertheless, no significant association between ESR1 XbaI (A>G) (rs9340799) polymorphism and the risk of breast cancer was observed in pre-menopausal and post-menopausal individuals. Conclusion: Based on a homogeneous Asian population, results from the current meta-analysis indicates that the ESR1 PvuII (C>T) polymorphism places pre-menopausal breast cancer women at risk for breast cancer, while ESR1 XbaI (A>G) polymorphism is not likely to predict the risk of breast cancer.

show abstract

Section: Menopausal Status Modifies Breast Cancer Risk Associated Witmentioning

confidence: 95%

Section: Menopausal Status Modifies Breast Cancer Risk Associated Witmentioning

confidence: 99%

Menopausal Status Modifies Breast Cancer Risk Associated with ESR1 PvuII and XbaI Polymorphisms in Asian Women: a HuGE Review and Meta-analysis

Liu¹,

Xu²

2012

Asian Pacific Journal of Cancer Prevention

View full text Add to dashboard Cite

show abstract

“…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

View full text Add to dashboard Cite

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.

show abstract

“…receptor gene and the risk of breast cancer. Others however, have shown an association between the presence of short [27][28][29] or long [30][31][32][33][34][35][36][37] alleles containing CAG repeats in the AR gene and an increased incidence of breast cancer. For example, Yu et al [38] indicated that longer CAG repeats in the AR gene are associated with lower grade of tumors, fewer lymph node metastases and longer survival.…”

Section: Discussionmentioning

confidence: 99%

The CAG repeat polymorphism of the androgen receptor gene and breast cancer

et al. 2014

View full text Add to dashboard Cite

show abstract

Association of repeat polymorphisms in the estrogen receptors alpha, beta (ESR1, ESR2) and androgen receptor (AR) genes with the occurrence of breast cancer

Cited by 32 publications

References 29 publications

Menopausal Status Modifies Breast Cancer Risk Associated with ESR1 PvuII and XbaI Polymorphisms in Asian Women: a HuGE Review and Meta-analysis

Menopausal Status Modifies Breast Cancer Risk Associated with ESR1 PvuII and XbaI Polymorphisms in Asian Women: a HuGE Review and Meta-analysis

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

The CAG repeat polymorphism of the androgen receptor gene and breast cancer

Contact Info

Product

Resources

About