ABSTRACT. The association of tumor differentiation and estrogen receptor expression with the prognosis of breast cancer has been well established. Nevertheless, little is yet reported about the association of morphological characteristics of the tumor, estrogen receptor status and polymorphisms in low penetrance genes. The aim of the present study was to investigate a possible association between DNA repair gene polymorphisms (XRCC1, XPD, XRCC3, and RAD51) with histological type, grade and hormone receptor expression in a series of breast cancers. A cross-sectional study was carried out to evaluate 94 women with breast carcinoma, who had already 575 ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 7 (3): 574-582 (2008) DNA repair polymorphisms and breast cancer risk been selected and included in a study on the association of DNA repair gene polymorphisms. For immunohistochemistry, formalinfixed, paraffin-embedded tissue samples from breast tumors were consecutively retrieved from the histopathology files of our institution. DNA obtained from blood samples of the same patients was investigated for the presence of the following polymorphisms: Arg399Gln located in the XRCC1 gene; 135C/G located in the RAD51 gene; Lys751Gln located in the XPD gene and Thr241Met located in the XRCC3 gene. Polymorphisms were considered to be independent variables and hormone receptor expression and the morphological characteristics of the tumors comprised the dependent variables. No statistically significant association was found between gene polymorphisms and hormone receptor status. The association between XRCC1-Arg399Gln polymorphism and ductal carcinoma was statistically significant (P = 0.02). The association of the XPDLys751Gln polymorphism with histological grade was also statistically significant (P = 0.05). In conclusion, the XRCC1 genotype was found to be associated with ductal carcinoma histotypes and XPD genotype with low histological grade, which is the most frequent pattern of sporadic breast carcinomas.

Conflito de interesses: Não Contribuição dos autores:ALA concepção e planejamento do projeto de pesquisa. EHRVB concepção e planejamento do projeto de pesquisa. OTN redação e revisão crítica. MWMP obtenção ou análise/interpretação dos dados. JASS concepção e planejamento do projeto de pesquisa. VCS obtenção ou análise/interpretação dos dados. APF redação e revisão crítica. Contato para correspondência: Aparecido Pimentel Ferreira E-mail: cidopimentel@yahoo.com. Descritores: Idoso; Genética; Doenças Cardiovasculares. AbstractIntroduction: Aging is a physiological process characterized by a decrease in functional capacity and the increase over the incidence of diseases, especially the cardiovascular ones. Several aspects are associated with the appearance of risk factors in cardiovascular diseases in the elderly population. Among them, we highlight the genetic factors. Objective: Check the allelic variation of gene of apolipoprotein E and its association with risk factors for cardiovascular diseases in the elderly population. Patients and Methods:The sample was composed of 62 elderly living in geriatric long-term care facility in the city of Brasí-lia, Federal District. We evaluated anthropometric variables, risk factors in cardiovascular diseases, and genotype identification through DNA extraction and genotyping of ApoE. Results: The allele ɛ3ɛ3 was the most prevalent followed by allele ɛ3ɛ4, and ɛ2ɛ4, respectively. Conclusion: There was no effect of the allelic variation of ApoE in the incidence of diseases and risk factors in cardiovascular diseases diagnosed in the elderly, strengthening the influence of environmental aspects in the worsening of these conditions. It was observed the presence of a high prevalence of risk factors in cardiovascular diseases.Descriptors: Aged; Genetics; Cardiovascular Diseases. IntroduçãoO envelhecimento, considerado um processo fisiológico, progressivo e dinâmico, é caracterizado por alterações orgânicas que podem resultar em redução da capacidade de adaptação do organismo, ocasionando uma série de complicações à saúde, que aumentam as chances de perda da autonomia e de mortalidade (1)(2) . O envelhecimento parece tornar o organismo maisAssociation between gene polymorphism of apolipoprotein E and cardiovasculaes risk factors in elderly

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