Skip to main content

Advertisement

SpringerLink
Log in

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

  • Epidemiology
  • Published:
Breast Cancer Research and Treatment Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Narod S, Ford D, Devilee P et al (1995) Genetic heterogeneity of breast–ovarian cancer revisited. Am J Hum Genet 57:957–958

    PubMed  CAS  Google Scholar 

  2. Koifman RJ, Koifman S, Vieria RJS (1998) Familial aggregation of breast/ovarian cancer age of onset along subsequent generations in Brazil. Cad Saude Publica 14(Suppl 3):181–185

    PubMed  Google Scholar 

  3. Ford D, Easton DF, Bishop DT et al (1994) Risks of cancer in BRCA1-mutation carriers. Lancet 343:692–695

    Article  PubMed  CAS  Google Scholar 

  4. Thompson D, Easton D, Breast Cancer Linkage Consortium (2001) Variation in cancer risks by mutation position in BRCA2 mutation carriers. Am J Hum Genet 68:410–419

    Article  PubMed  CAS  Google Scholar 

  5. Thompson D, Easton D, the Breast Cancer Linkage Consortium (2002) Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev 11:329–336

    PubMed  CAS  Google Scholar 

  6. King M-C, Marks JH, Mandell JB et al (2003) Breast and ovarian cancer risks dud to inherited mutations in BRCA1 and BRCA2. Science 302:643–646

    Article  PubMed  CAS  Google Scholar 

  7. Antoniou A, Pharoah PDP, Narod S et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 and BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117–1130

    Article  PubMed  CAS  Google Scholar 

  8. Narod SA, Foulkes WD (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4:665–676

    Article  PubMed  CAS  Google Scholar 

  9. Kuperstein G, Foulkes WD, Ghadirian P et al (2000) A rapid fluorescent multiplexed-PCR analysis (FMPA) for founder mutations in the BRCA1 and BRCA2 genes. Clin Genet 57:213–220

    Article  PubMed  CAS  Google Scholar 

  10. The BRCA1 Exon 13 Duplication Screening Group (2000) The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. Am J Hum Genet 67:207–212

    Article  Google Scholar 

  11. Kuperstein G, Jack E, Risch H et al (2006) A fluorescent multiplexed-DGGE (FMD) screening test for BRCA1 gene. Genet Test 10:1–7

    Article  PubMed  CAS  Google Scholar 

  12. Gross E, Arnold N, Pfeifer K et al (2000) Identification of specific BRCA1 and BRCA2 variants by DHPLC. Hum Mutat 16:345–353

    Article  PubMed  CAS  Google Scholar 

  13. Ford D, Easton DF, Bishop DT et al (1994) Risks of cancer in BRCA1-mutation carriers. Lancet 343:692–695

    Article  PubMed  CAS  Google Scholar 

  14. Thompson D, Easton D, the Breast Cancer Linkage Consortium (2001) Variation in cancer risks by mutation position in BRCA2 mutation carriers. Am J Hum Genet 68:410–419

    Article  PubMed  CAS  Google Scholar 

  15. Thompson D, Easton D, the Breast Cancer Linkage Consortium (2002) Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev 11:329–336

    PubMed  CAS  Google Scholar 

  16. King M-C, Marks JH, Mandell JB et al (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302:643–646

    Article  PubMed  CAS  Google Scholar 

  17. Dufloth RM, Carvalho S, Heinrich JK et al (2005) Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history. Sao Paulo Med J 123:192–197

    Article  PubMed  Google Scholar 

  18. Tonin P, Weber B, Offit K et al (1996) Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med 2:1179–1183

    Article  PubMed  CAS  Google Scholar 

  19. Gorski B, Byrski T, Huzarski T et al (2000) Founder mutations in BRCA1 gene in Polish families with breast–ovarian cancer. Am J Hum Genet 66:1963–1968

    Article  PubMed  CAS  Google Scholar 

  20. Carvalho-Silva DR, Santos FR, Rocha J et al (2001) The phylogeography of Brazilian Y-chromosome lineages. Hum Genet 68:281–286

    Article  CAS  Google Scholar 

  21. Jara L, Ampuero S, Santibanez E et al (2006) BRCA1 and BRCA2 mutations in a South American population. Cancer Cenet Cytogenet 166:36–45

    Article  CAS  Google Scholar 

  22. Gallardo M, Silva A, Rubio L et al (2006) Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype–phenotype correlations. Breast Cancer Res Treat 95:81–87

    Article  PubMed  CAS  Google Scholar 

  23. Risch HA, McLaughlin JR, Cole DEC et al (2001) Prevalance and penetrance of germline BRCA1 and BRCA1 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 68:700–710

    Article  PubMed  CAS  Google Scholar 

  24. Unger MA, Nathanson KL, Calzone K et al (2000) Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet 67:841–850

    Article  PubMed  CAS  Google Scholar 

Download references

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).

Author information

Authors and Affiliations

  1. Department of Oncology, Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil

    Magda C. B. Gomes

  2. Antonio Pedro University Hospital, Fluminense Federal University, Rio de Janeiro, Brazil

    Magda C. B. Gomes

  3. Department of Obstetrics and Gynecology, Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil

    Mauricio M. Costa

  4. Department of Histology and Embriology, Institute of Biomedical Sciences, Universidade Federal de Rio de Janeiro, Rio de Janeiro, Brazil

    Radovan Borojevic

  5. Risk Assessment, Detection and Intervention Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, 33612, USA

    Alvaro N. A. Monteiro

  6. Department of Interdisciplinary Oncology, College of Medicine, University of South Florida, Tampa, FL, 33612, USA

    Alvaro N. A. Monteiro

  7. Instituto Fernandes Figueiras, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil

    Roberto Vieira

  8. Department of Epidemiology, National School of Public Health, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil

    Sergio Koifman & Rosalina Jorge Koifman

  9. The Centre for Research in Women’s Health, University of Toronto, 790 Bay Street, Toronto, ON, Canada, M5G 1N8

    Song Li, Robert Royer, Shiyu Zhang & Steven A. Narod

Authors
  1. Magda C. B. Gomes
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Mauricio M. Costa
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Radovan Borojevic
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Alvaro N. A. Monteiro
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Roberto Vieira
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Sergio Koifman
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Rosalina Jorge Koifman
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Song Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Robert Royer
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Shiyu Zhang
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Steven A. Narod
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Steven A. Narod.

Additional information

All studies listed in this paper are in accordance with the ethical standards of the regional hospitals in the listed study area.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gomes, M.C.B., Costa, M.M., Borojevic, R. et al. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat 103, 349–353 (2007). https://doi.org/10.1007/s10549-006-9378-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10549-006-9378-6

Keywords

Search

Navigation