Background: The estrogen receptor alpha (ESR1) is a mediator of estrogen response in the breast. The most studied variants in this gene are the PvuII and XbaI polymorphisms, which have been associated to lower sensitivity to estrogen. We evaluated whether these polymorphisms were associated with breast cancer risk by means of an association study in a population of Caucasian postmenopausal women from the Rotterdam study and a meta-analysis of published data. Methods: The PvuII and XbaI polymorphisms were genotyped in 3,893 women participants of the Rotterdam Study. Baseline information was obtained through a questionnaire. We conducted logistic regression analyses to assess the risk of breast cancer by each of the ESR1 genotypes. Meta-analyses of all publications on these relations were done by retrieving literature from Pubmed and by further checking the reference lists of the articles obtained. Results: There were 38 women with previously diagnosed breast cancer. During follow-up, 152 were additionally diagnosed. The logistic regression analyses showed no difference in risk for postmenopausal breast cancer in carriers of the PvuII or XbaI genotypes neither in overall, incident or prevalent cases. No further evidence of a role of these variants was found in the meta-analysis. Conclusions: Our results suggest that the ESR1 polymorphisms do not play a role in breast cancer risk in Caucasian postmenopausal women.

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Keywords Breast cancer, Estrogen receptor, Polymorphism
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Journal Breast Cancer Research and Treatment
González-Zuloeta Ladd, A.M, Vásquez, A.A, Rivadeneira Ramirez, F, Siemes, C, Hofman, A, Stricker, B.H.Ch, … Tikka-Kleemola, P. (2008). Estrogen receptor α polymorphisms and postmenopausal breast cancer risk. Breast Cancer Research and Treatment, 107(3), 415–419. doi:10.1007/s10549-007-9562-3