The Estrogen Receptor α Gene and Breast Cancer Risk (The Netherlands)

Abstract

The results of this study suggest that the PvuII polymorphism in the ER-alpha, or another mutation in linkage disequilibrium with PvuII, in combination with high E2 levels increases breast cancer risk in postmenopausal women.

Estrogen Receptor Alpha Gene Polymorphisms and Breast Cancer Risk: a Case-control Study with Meta-analysis Combined

“…Based on their analysis, the PvuII polymorphism was not associated with estrogen receptor content or patient age at tumor diagnosis. Although this conclusion was also supported by Wedrén et al in Sweden (Wedren et al, 2004), other researchers, such as Cai et al (2003) and Onland-Moret et al (2005), have failed to show this same result with different populations. Another polymorphic variant XbaI did not show any association with breast cancer risk in a Shanghai (China) population (Cai et al, 2003;Shen et al, 2006), but it was strongly correlated with susceptibility to breast cancer in Korean women (Shin et al, 2003).…”

“…Among controls, the frequency of the 'T' allele at the PvuII site ranged from 48.8% in a Utrecht population of the Netherlands to 64.2% in a Zhejiang population of China (Hu et al, 2007). In contrast, the frequency of the 'A' allele at the XbaI site among controls ranged from 53.9% in a Dutch population to 77.7% in a Chinese population (Onland-Moret et al, 2005;Hu et al, 2007).…”

“…Examining the PvuII polymorphism first, only 13 studies to date have investigated the relationship between the PvuII polymorphism and breast cancer risk, and all of these studies were in Hardy-Weinberg equilibrium (Yaich et al, 1992;Cai et al, 2003;Shin et al, 2003;Wedren et al, 2004;Lu et al, 2005;Onland-Moret et al, 2005;Shen et al, 2006;Hu et., 2007;Kjaergaard et al, 2007;Gonzalez-Mancha et al, 2008;Gonzalez-Zuloeta et al, 2008;Dunning et al, 2009). Except for the model ('CC' vs. 'CT+TT', P = 0.008), there was little evidence of statistical heterogeneity.…”

“…A total of 11 studies were included in the meta-analysis performed to examine the associations between the XbaI polymorphism and breast cancer risk; four studies of these were not consistent with Hardy-Weinberg proportions (Cai et al, 2003;Shin et al, 2003;Wedren et al, 2004;Lu et al, 2005;Onland-Moret et al, 2005;Shen et al, 2006;Hu et., 2007;Gonzalez-Zuloeta et al, 2008;Dunning et al, 2009). Since there is heterogeneity in model ('G' vs. 'A'), random-effects analysis was selected.…”

Active and passive smoking, IL6, ESR1, and breast cancer risk

“…The three most widely studied polymorphisms of the ESR1, the PvuII 397T > C, the XbaI (351A > G) restriction fragment length polymorphisms, both located in intron 1, and the TA repeat within the promoter region of the gene, are in linkage disequilibrium [18,19]. These polymorphisms have been examined with breast cancer risk [20][21][22][23] as well as with other conditions that have been linked to estrogen [19,24,25] with mixed results.…”