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Polymorphisms in the Estrogen Receptor Alpha Gene and Mammographic Density Result Study in Brazilian Women | OMICS International | Abstract
ISSN: 1948-5956

Journal of Cancer Science & Therapy
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Research Article

Polymorphisms in the Estrogen Receptor Alpha Gene and Mammographic Density Result Study in Brazilian Women

Marilene Alícia Souza1*, Angela Maggio da Fonseca1, Vicente Renato Bagnoli1, Nestor de Barros1, Victor Hugo Souza Hortense2, Solange Oliveira Braga Franzolin3, José Maria Soares Jr1 and Edmund Chada Baracat1

1Department of Obstetrics Gynecology, Faculty of Medicine, University of São Paulo (HC-FMUSP), Brazil

2Department of Radiology/Mammography, Faculty of Medicine, University of São Paulo (HC-FMUSP), Brazil

3Faculty of Medicine, Pontifical Catholic University of Paraná (FM-PUC), Brazil

4Faculty of Medicine, State University of São Paulo (UNESP), Brazil

*Corresponding Author:
Marilene A Souza
Rua Azarias Leite, 12-22, Bauru
SP, CEP 17010250, Brazil
Tel: 551432236538
Fax: 551432236538
E-mail: [email protected]

Received Date: November 24, 2013; Accepted Date: December 23, 2013; Published Date: December 31, 2013

Citation: Souza MA, Fonseca AM, Bagnoli VR, de Barros N, Hortense VHS, et al. (2013) Polymorphisms in the Estrogen Receptor Alpha Gene and Mammographic Density Result Study in Brazilian Women. J Cancer Sci Ther 5:446-451. doi:10.4172/1948-5956.1000239

Copyright: © 2013 Souza MA, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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.