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Breast Cancer Research and Treatment

, Volume 103, Issue 3, pp 349–353 | Cite as

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

  • Magda C. B. Gomes
  • Mauricio M. Costa
  • Radovan Borojevic
  • Alvaro N. A. Monteiro
  • Roberto Vieira
  • Sergio Koifman
  • Rosalina Jorge Koifman
  • Song Li
  • Robert Royer
  • Shiyu Zhang
  • Steven A. Narod
Epidemiology

Abstract

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% of the total. The most common mutation, 5382insC in BRCA1, was seen five times and accounted for 56% 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.

Keywords

Brazil BRCA1 BRCA2 Breast cancer Hereditary 

Notes

Acknowledgments

The authors would like to acknowledge support in the form of research grants from the Canadian Breast Cancer Research Alliance (CBCRA), and the Union International Centre le Cancer. Dr. Magda Gomes is also the recipient of an International Cancer Technology Transfer (ICRETT) Fellowship from the International Union Against Cancer (UICC).

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Copyright information

© Springer Science+Business Media B.V. 2006 2006

Authors and Affiliations

  • Magda C. B. Gomes
    • 1
    • 2
  • Mauricio M. Costa
    • 3
  • Radovan Borojevic
    • 4
  • Alvaro N. A. Monteiro
    • 5
    • 6
  • Roberto Vieira
    • 7
  • Sergio Koifman
    • 8
  • Rosalina Jorge Koifman
    • 8
  • Song Li
    • 9
  • Robert Royer
    • 9
  • Shiyu Zhang
    • 9
  • Steven A. Narod
    • 9
  1. 1.Department of Oncology, Clementino Fraga Filho University HospitalFederal University of Rio de JaneiroRio de JaneiroBrazil
  2. 2.Antonio Pedro University HospitalFluminense Federal UniversityRio de JaneiroBrazil
  3. 3.Department of Obstetrics and Gynecology, Clementino Fraga Filho University HospitalFederal University of Rio de JaneiroRio de JaneiroBrazil
  4. 4.Department of Histology and Embriology, Institute of Biomedical SciencesUniversidade Federal de Rio de JaneiroRio de JaneiroBrazil
  5. 5.Risk Assessment, Detection and Intervention ProgramH. Lee Moffitt Cancer Center and Research InstituteTampaUSA
  6. 6.Department of Interdisciplinary Oncology, College of MedicineUniversity of South FloridaTampaUSA
  7. 7.Instituto Fernandes FigueirasFundação Oswaldo CruzRio de JaneiroBrazil
  8. 8.Department of Epidemiology, National School of Public HealthOswaldo Cruz FoundationRio de JaneiroBrazil
  9. 9.The Centre for Research in Women’s HealthUniversity of TorontoTorontoCanada

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