Polymorphism in CYP17, GSTM1 and the progesterone receptor genes and its relationship with mammographic density

Polymorphism in CYP17, GSTM1 and the progesterone receptor genes and its relationship with mammographic density

Author Chambô, Danielle Autor UNIFESP Google Scholar
Kemp, Claudio Autor UNIFESP Google Scholar
Costa, A.m.m. Autor UNIFESP Google Scholar
Nogueira-de-Souza, Naiara Corrêa Autor UNIFESP Google Scholar
Silva, Ismael Dale Cotrim Guerreiro da Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract Radiologic breast density is one of the predictive factors for breast cancer and the extent of the density is directly related to postmenopause. However, some patients have dense breasts even during postmenopause. This condition may be explained by the genes that codify for the proteins involved in the biosynthesis, as well as the activity and metabolism of steroid hormones. They are polymorphic, which could explain the variations of individual hormones and, consequently, breast density. The constant need to find markers that may assist in the primary prevention of breast cancer as well as in selecting high risk patients motived this study. We determined the influence of genetic polymorphism of CYP17 (cytochrome P450c17, the gene involved in steroid hormone biosynthesis), GSTM1 (glutathione S-transferase M1, an enzyme involved in estrogen metabolism) and PROGINS (progesterone receptor), for association with high breast density. One hundred and twenty-three postmenopausal patients who were not on hormone therapy and had no clinical or mammographic breast alterations were included in the present study. The results of this study reveal that there was no association between dense breasts and CYP17 or GSTM1. There was a trend, which was not statistically significant (P = 0.084), towards the association between PROGINS polymorphism and dense breasts. However, multivariate logistic regression showed that wild-type PROGINS and mutated CYP17, taken together, resulted in a 4.87 times higher chance of having dense breasts (P = 0.030). In conclusion, in the present study, we were able to identify an association among polymorphisms, involved in estradiol biosyntheses as well as progesterone response, and radiological mammary density.
Keywords Mammography
17-alpha hydroxylase steroid
Glutathione transferase
Progesterone receptor
Genetic polymorphism
Language English
Date 2009-04-01
Published in Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 42, n. 4, p. 323-329, 2009.
ISSN 0100-879X (Sherpa/Romeo, impact factor)
Publisher Associação Brasileira de Divulgação Científica
Extent 323-329
Origin http://dx.doi.org/10.1590/S0100-879X2009000400003
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000264695800003
SciELO ID S0100-879X2009000400003 (statistics in SciELO)
URI http://repositorio.unifesp.br/handle/11600/4967

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