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A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene |
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| Authors: | Gustavo J. Lourenço Cassio Cardoso-Filho Neiva S. L. Gonçales Julia Y. Shinzato Luis C. Zeferino Helvia Nascimento Fernando F. Costa Maria S. C. Gurgel Carmen S. P. Lima |
| Affiliation: | 1. Department of Internal Medicine State, University of Campinas Rua Alexander, Flemming no 181, Cidade Universitária “Zeferino Vaz”, Distrito de Bar?o Geraldo, Campinas, S?o Paulo, CEP: 13083-970, Brazil 2. Department of Obstetric and Gynecology, Faculty of Medical Sciences, State University of Campinas, Campinas, S?o Paulo, Brazil |
| Abstract: | We investigated the influence of the polymorphism D104N of the COL18A1 gene, encoding endostatin, on the occurrence of sporadic breast cancer in 181 patients and 448 controls. The homozygous 104NN polymorphism was found in five patients but was absent in controls (2.8% vs 0.0%; P = 0.002). Individuals with this genotype had a significantly increased risk for disease. Our results suggest, for the first time, that the homozygous 104NN polymorphism, even at low frequency, constitutes an important inherited determinant of the disease. |
| Keywords: | Breast cancer COL18A1 gene D104 polymorphism Endostatin |
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