Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/33096
Title: TP53 mutations in breast cancer tumors of patients from Rio de Janeiro, Brazil: association with risk factors and tumor characteristics
Authors: Simão, T. A.
Ribeiro, F. S.
Amorim, L. M.
Albano, R. M.
Serpa, M. J. A.
Cardoso, L. E.
Mendonça, G. A.
Gallo, C. V. M.
Affilliation: Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Bioquímica. Rio de Janeiro, RJ, Brasil.
Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Bioquímica. Rio de Janeiro, RJ, Brasil.
Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Bioquímica. Rio de Janeiro, RJ, Brasil / Universidade Federal Fluminense. Instituto de Biologia. Departamento de Biologia Celular e Molecular. Niterói, RJ, Brasil.
Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Bioquímica. Rio de Janeiro, RJ, Brasil.
Instituto Nacional do Câncer. Setor de Pesquisa Básica. Rio de Janeiro, RJ, Brasil.
Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Bioquímica. Rio de Janeiro, RJ, Brasil.
Universidade do Estado do Rio de Janeiro. Instituto de Medicina Social. Departamento de Medicina Social. Rio de Janeiro, RJ, Brasil.
Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Bioquímica. Rio de Janeiro, RJ, Brasil.
Abstract: Somatic mutations in the TP53 gene are the most frequently observed genetic alterations in human malignancies, including breast cancer, which is one of the leading causes of death among women in Brazil. In our study,we determined the frequency and the pattern of TP53 mutations in malignant breast tumors from 120 patients living in Rio de Janeiro, Brazil. TP53 mutations were found in 20% of the tumors, which contained a diversity of mutation types: missense (62.5%), nonsense (8.3%), silent (4.2%), intronic(12.5%), insertion (4.2%) and deletion (8.3%). Of a total of 15 missense mutations, 4 were observed at Arg248 and 2 at Cys242, which are directly involved in DNA binding and in zinc binding, respectively. A subgroup of 51 patients was analyzed with respect to the relation between the presence of TP53 mutations and classical risk factors and with tumorand patient characteristics. For this analysis, we used logistic regression and, in order to obtain more precise confidence intervals, they were recalculated using a bootstrap resampling technique. Our results demonstrate that these mutations are not statistically associated with the risk factors or the patients’ characteristics. However, the presence of TP53 mutations is strongly associated with the aggressiveness of the tumors, measured by Elston classification (OR = 11.97 and 95% CI of 2.24–307.05). This finding is in agreement with previous studies, which report the presence of TP53 mutations in tumors with poor prognosis. This correlation between tumor aggressiveness and TP53 mutations could be a crucial variable for the treatment and prognosis of breast cancer.
Keywords: TP53 gene
Breast cancer
Risk factors
Clinicopathologic features
Rio de Janeiro
Brazil
Elston grade
Issue Date: 2002
Publisher: Wiley
Citation: SIMÃO, Tatiana A. et al. TP53 mutations in breast cancer tumors of patients from Rio de Janeiro, Brazil: association with risk factors and tumor characteristics. International Journal of Cancer, v. 101, p. 69-73, 2002.
Description: Maria J. Andrada Serpa - Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta a informação no documento.
DOI: 10.1002/ijc.10567
ISSN: 0020-7136
Copyright: restricted access
Appears in Collections:INI - Artigos de Periódicos

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