Marilene Alícia Souza*, Angela Maggio da Fonseca, Vicente Renato Bagnoli, Nestor de Barros, Victor Hugo Souza Hortense, Solange Oliveira Braga Franzolin, José Maria Soares Jr and Edmund Chada Baracat
The estrogen receptor (ER) is a ligand-activated transcription factor that mediates the actions of the estrogen in target tissues. Several ERα gene polymorphisms are associated with changes in the receptor expression and function. The aim of this study is to verify the hypothesis that the ERα gene polymorphisms could be associated with high mammographic density(HMD), a well known independent risk factor for breast cancer ( BC ) in a casecontrol study carried out in the city of São Paulo (SP, Brazil) from 2010 to 2013 . Two ERα gene polymorphisms named PvuII and XbaI was examined in 308 cases and 155 controls. The PvuII polymorphism was associated with an increased risk of having high mammographic density (HMD) post menopause, after adjustment for other risk factors, the odds ratio for pp genotypes was 1.75 (confidence interval of 95% CI 95%=1.10-2.79 ) compared with the genotypes PP and Pp. The XbaI polymorphism was also associated with a high risk of HMD, but not statistically significant, odds ratio for xx genotype was 1.31 (95% CI=0.7 to 1.9). No apparent synergistic effects of these two polymorphisms were identified. It was concluded that the Pvull polymorphism in the gene ERα was associated with an increasing chance of have HMD, a strong risk factor for BC. Thus recognizing these risk factors will be of great importance in the analyses of individual susceptibility to BC, in both the study of the response to various drugs and the prognosis.
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