Breast Cancer Research and Treatment

, Volume 103, Issue 2, pp 225–232 | Cite as

High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia

  • Diana Torres
  • Muhammad Usman Rashid
  • Fabian Gil
  • Angela Umana
  • Giancarlo Ramelli
  • Jose Fernando Robledo
  • Mauricio Tawil
  • Lilian Torregrosa
  • Ignacio Briceno
  • Ute Hamann


In South America, a high proportion of the population is of Hispanic origin with an important representation in Colombia. Since nothing is known about the contribution of BRCA1 and BRCA2 germline mutations to hereditary breast/ovarian cancer in the Hispanic population from Colombia, we conducted the first study of 53 breast/ovarian cancer families from this country. Comprehensive BRCA mutation screening was performed using a range of techniques, including DHPLC, SSCP, and PTT, followed by DNA sequencing analysis. Thirteen deleterious germline mutations (24.5%) were identified in 53 families, comprising eight in BRCA1 and five in BRCA2. The two recurrent BRCA1 mutations, 3450 delCAAG and A1708E, accounted for 100% of all BRCA1 mutations identified in this cohort and the recurrent 3034 delACAA BRCA2 mutation for 40% of all BRCA2 mutations. Haplotype analyses suggested that each of these mutations has arisen from a common ancestor. The prevalence of BRCA1 or BRCA2 mutations was 50% in multiple case breast cancer families, and was 33% for the breast-ovarian cancer families. Our findings show that BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer in Colombia. The spectrum of mutations differed completely to that previously reported in Hispanic families of predominantly Mexican origin from Southern California [1] suggesting that specific genetic risk assessment strategies for the different Hispanic populations in South America and in the United States need to be developed.


BRCA1/2 Germline mutations Hereditary breast/ovarian cancer Hispanics Colombia 



Single strand conformational polymorphism


Protein truncation test


Denaturing high-pressure liquid chromatography



We are grateful to all family members for their participation in this study. We thank Jaime Bernal for his support in the recruitment of families. We thank Alberto Gómez for critical discussions and reading of the manuscript, Bernd Arnold and Dieter Niederacher for DNA samples of BRCA1/2 mutation controls and advice for DHPLC analysis, Ana Osorio for providing a DNA sample of a Spanish A1708E mutation carrier, and Antje Seidel-Renkert and Michael Gilbert for expert technical assistance. This work was supported by the Deutsches Krebsforschungszentrum, Heidelberg and the Pontificia Universidad Javeriana, Bogotá. Diana Torres was a guest researcher from the Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia in the DKFZ, Heidelberg, supported by a fellowship from the DAAD, Germany, and by a special funding of the Vicerrectoría Académica, Pontificia Universidad Javeriana, Bogotá, Colombia.


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Copyright information

© Springer Science+Business Media B.V. 2006

Authors and Affiliations

  • Diana Torres
    • 1
    • 3
  • Muhammad Usman Rashid
    • 1
    • 4
  • Fabian Gil
    • 2
  • Angela Umana
    • 3
  • Giancarlo Ramelli
    • 3
  • Jose Fernando Robledo
    • 5
  • Mauricio Tawil
    • 6
  • Lilian Torregrosa
    • 6
  • Ignacio Briceno
    • 3
  • Ute Hamann
    • 1
  1. 1.Division of Molecular Genome AnalysisGerman Cancer Research CenterHeidelbergGermany
  2. 2.Unidad de Epidemiología Clínica y BioestadísticaPontificia Universidad JaverianaBogotáColombia
  3. 3.Instituto de Genética HumanaPontificia Universidad JaverianaBogotáColombia
  4. 4.Shaukat Khanum Memorial Cancer Hospital and Research CenterLahorePakistan
  5. 5.Departamento de CirugíaClínica del CountryBogotáColombia
  6. 6.Facultad de Medicina, Departamento de CirugíaPontificia Universidad JaverianaBogotáColombia

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