Estrogen receptor polymorphisms in tamoxifen-treated women with breast cancer

Georgopoulos, Neoklis A.; Adonakis, George; Fotopoulos, Andreas; Koika, Vasiliki; Spinos, Nikitas; Saltamavros, A.; Keramopoulos, Antonios; Koukouras, D.; Decavalas, George; Kourounis, George

doi:10.1080/09513590600645767

Cited by 7 publications

(3 citation statements)

References 13 publications

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“…Our panel included two often studied SNPs (rs1256049 [RsaI] and rs4986938 [AluI]), previously examined in relation to cancer at various sites, including colon or rectum [10], endometrium [23], ovary [24], prostate [9, 25, 26], and breast [11–14, 16, 27, 28], though implicated only in rectal (rs1256049 (RsaI); [10]) and breast cancer (rs4986938 (AluI); [12]). Though rs1256049 [RsaI] showed moderate linkage with rs1256061 (r 2 =0.55), differences in lung tumor ERβ expression in relation to rs1256049 [RsaI] were not statistically significant (Table 2).…”

Section: Discussionmentioning

confidence: 99%

Genetic variation in ESR2 and estrogen receptor-beta expression in lung tumors

Song

Siegfried

Diergaarde

et al. 2013

Cancer Epidemiology

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Objective To investigate the association between inherited variation in the estrogen receptor beta (ERβ) gene (ESR2) and ERβ lung tumor expression, a phenotype that possibly affects survival differently in men and women. Methods We genotyped 135 lung cancer patients for 22 ESR2 single nucleotide polymorphisms (SNPs) and measured nuclear and cytoplasmic ERβ expression by immunohistochemistry (IHC) in their primary lung tumor. Distributing Allred ERβ IHC scores according to ESR2 genotype classified under a dominant genetic model, we used rank sum tests to identify ESR2 SNPs significantly associated (p<0.05) with ERβ expression. Results 35%, 35%, and 29% of lung tumors showed no/low (Allred <6), intermediate (Allred 6 to 7), and maximal (Allred 8) cytoplasmic ERβ expression, whereas 13%, 27%, and 60% showed no/low, intermediate, and maximal nuclear ERβ expression. For SNPs rs8021944, rs1256061 and rs10146204, ERβ expression was higher according to the rank sum test in lung tumors from patients with at least one minor allele. For each of these three SNPs, the odds of maximal (Allred 8) relative to no/low (Allred <6) ERβ expression was 3-fold higher in tumors from patients with at least one minor allele than in tumors from patients homozygous for the common allele. Conclusion Inherited variability in ESR2 may determine ERβ lung tumor expression.

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Section: Discussionmentioning

confidence: 99%

Genetic variation in ESR2 and estrogen receptor-beta expression in lung tumors

Song

Siegfried

Diergaarde

et al. 2013

Cancer Epidemiology

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“…Because of the phenotypic prevalence of the wild-type allele, the heterozygotes do not express the polymorphism. The Pvu II and Xba I polymorphisms of the ERα gene and the RsaI and Alu I polymorphisms of the ERβ gene have been associated with breast cancer [19,20] and other tumors [21]. The homozygosity of the polymorphic-type alleles showed that the a alleles were more frequent in the melanoma group than in the control group, with proportions of 43.8 and 39.5%, respectively.…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms of Estrogen Receptors: Risk Factors for Invasive Melanoma – A Prospective Study

Giorgi

Sestini²,

Gori³

et al. 2011

Oncology

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Cross-sectional studies have reported associations between a number of polymorphisms in the estrogen receptor alpha (ERα) gene and the body mass index, hypertension, coronary flow reserve, coronary atherosclerosis, and osteoporosis. There are currently no data examining the genetic polymorphisms of the ERα and estrogen receptor beta (ERβ) genes in melanoma patients. The aims of this study were to investigate the associations of genetic polymorphisms of the ERα and ERβ genes with melanoma risk. The study group consisted of consecutive patients who visited the Department of Dermatology of the University of Florence between March 2005 and July 2007 for surgical excision of melanoma. In our study, homozygosity for the wild-type alleles showed different results at the PvuII, XbaI, and AluI restriction sites. Only the AluI site showed a lower proportion of the A allele in the melanoma group compared to the control group; the P and X alleles were lower in the control group than in the melanoma group. The distribution of wild-type alleles is important because these alleles have a protective role in the expression of altered proteins, which involves the ERs in our case. Because of the phenotypic prevalence of the wild-type allele, the heterozygotes did not express the polymorphism. The homozygosity of the polymorphic-type alleles shows that a alleles are more frequent in the case group than in the control group, with proportions of 43.8 and 39.5%, respectively. These results suggest that a polymorphism at the AluIrestriction site correlates with a higher proportion of melanoma. Thus, the polymorphism of ERβ could ascribe to a higher susceptibility to melanoma.

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“…SNPs have been identified in the two genes encoding ERs, ESR1 and ESR2 (encoding ERα and ERβ, respectively), which alter their expression (3). Most studies of ER SNPs have focused on their roles in breast cancer (12), osteoporosis (13) and prostate cancer (14). However, little information exists to describe the role of ER polymorphisms in unexplained infertility.…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms in estrogen receptor-α are associated with idiopathic female infertility

2011

Mol Med Report

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Abstract. To investigate the relationship between polymorphisms in the estrogen receptor-α (ERα) gene and unexplained female infertility, restriction fragment length polymorphism (RFLP) analysis of ERα was employed in 150 females with idiopathic infertility (study group) and 150 healthy, age-matched females of proven fertility (control group). The results showed that the ERα allele frequencies differed significantly between the study and control groups (P=0.001). The allele identified by PvuII (P) restriction was detected more frequently in the study group (49.0% of individuals) compared to the control group (31.0%; P=0.001), while the allele identified by XbaI (X) restriction was detected less frequently in the study group (19.7%) compared to the control group (35.7%, P=0.001). A similar phenomenon was observed for the distribution of the TA alleles. The TA13 allele was more common in the study group (24.7 vs. 6.7% in controls; P=0.001), while the TA15 allele was less common in the study group (15.3 vs. 27.3% in controls; P=0.034). To conclude, polymorphisms in the ERα gene are associated with idiopathic female infertility. In particular, the P and TA13 alleles may represent significant risk factors, while the X and TA15 alleles may be protective factors.

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Estrogen receptor polymorphisms in tamoxifen-treated women with breast cancer

Cited by 7 publications

References 13 publications

Genetic variation in ESR2 and estrogen receptor-beta expression in lung tumors

Genetic variation in ESR2 and estrogen receptor-beta expression in lung tumors

Polymorphisms of Estrogen Receptors: Risk Factors for Invasive Melanoma – A Prospective Study

Polymorphisms in estrogen receptor-α are associated with idiopathic female infertility

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