Document details

Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil

Author(s): Gomes, Magda C. B. ; Costa, Maurício M. ; Borojevic, Radovan ; Monteiro, Alvaro N. A. ; Vieira, Roberto ; Koifman, Sergio ; Koifman, Rosalina Jorge ; Li, Song ; Robert Royer ; Shiyu Zhang ; Steven A. Narod

Date: 2007

Origin: Oasisbr

Subject(s): BRCA1; BRCA2; Breast Cancer; Hereditary; Neoplasias da Mama - genética; Genes BRCA1; Genes BRCA2; Testes Genéticos; Mutação


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Universidade Federal do Rio de Janeiro. Hospital Universitário Clementino Fraga Filho. Departamento de Oncologia. Rio de Janeiro, RJ, Brasil.

Universidade Federal do Rio de Janeiro. Hospital Universitário Clementino Fraga Filho. Departamento de Obstetrícia e Ginecologia. Rio de Janeiro, RJ, Brasil.

Universidade Federal do Rio de Janeiro. Instituto de Ciência Biomédicas. Departamento de Histologia e Embriologia. Rio de Janeiro, RJ, Brasil.

University of South Florida. College of Medicine. Department of Interdisciplinary Oncology. Tampa, FL, USA.

Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.

Fundação Oswaldo Cruz. Escola Nacional de Saúde Pública. Departamento de Epidemiologia. Rio de Janeiro, RJ, Brasil.

Fundação Oswaldo Cruz. Escola Nacional de Saúde Pública. Departamento de Epidemiologia. Rio de Janeiro, RJ, Brasil.

University of Toronto. The Centre for Research in Women’s Health. Toronto, ON, Canada.

University of Toronto. The Centre for Research in Women’s Health. Toronto, ON, Canada.

University of Toronto. The Centre for Research in Women’s Health. Toronto, ON, Canada

University of Toronto. The Centre for Research in Women’s Health. Toronto, ON, Canada.

The contribution of BRCA1 and BRCA2 to breast cancer incidence in Brazil has not yet been explored. In order to estimate the proportion of breast cancers due to BRCA1 and BRCA2 mutations in Brazil,we conducted a study of unselected breast cancer patients from Rio de Janeiro, Brazil. We enrolled 402 women with breast cancer from a large public hospital and two private medical clinics in the city. A detailed family history was obtained from each patient and a blood sample was obtained for DNA analysis. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques, but all mutations were confirmed by direct sequencing. Overall, nine mutations were identified (six in BRCA1 and three in BRCA2) representing 2.3 percent of the total. The most common mutation, 5382insC in BRCA1, was seen five times and accounted for 56 percent of all identified mutations. A second mutation, in BRCA2 (6633del5) was seen in two unrelated women. In summary, BRCA1 and BRCA2 mutations are not uncommon in Brazilian women with breast cancer. It appears that a small number of founder mutations may be predominant. Moreover, a small number of founder mutations may be prevalent in Brazil, raising the possibility that a rapid and inexpensive genetic test may be developed to screen for inherited susceptibility to breast cancer in Brazil.

Document Type Research article
Language Portuguese
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