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Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype

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Abstract

We have screened BRCA2 c.156_157insAlu founder mutation in a cohort of 168 women with diagnosis of breast cancer referred for genetic counseling because of risk of being carriers of hereditary breast and ovarian cancer syndrome. Portuguese founder mutation BRCA2 c.156_157insAlu was identified in three unrelated breast cancer probands. Genotyping identified a common haplotype between markers D13S260 and D13S171, and allele sizes were compatible to those described in the Portuguese families. Allele sizes of marker D13S1246, however, were concordant in two families, suggesting that the haplotype may be larger in a subset of families. Tumor phenotypes in Brazilian families seem to reinforce the high prevalence of breast cancer among affected males. However, an apparent excess of gastrointestinal and tongue neoplasias were also observed in these families. Although these tumors are not part of the phenotypic spectrum of hereditary breast and ovarian cancer syndrome, they might be accounted for by other risk alleles contained in the founder haplotype region.

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Acknowledgments

This work was partially funded by Fundação de Amparo a Pesquisa no Estado do Rio de Janeiro (FAPERJ) and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), Brazil. MAMM is recipient of CNPq grant 304403/2008-3. FRV is recipient of CNPq grants 401966/2010-0 and 476808/2010-3.

Ethical standards

This study has been approved by the local Institutional Review Board.

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Authors and Affiliations

  1. Genetics Program, Instituto Nacional de Câncer, Rio de Janeiro, Brazil

    Miguel A. M. Moreira, Irina G. Bobrovnitchaia, Maria Angélica F. D. Lima, Anna Cláudia E. Santos, Jesus P. Ramos, Kelly R. L. Souza & Fernando R. Vargas

  2. Departamento de Genética e Biologia Molecular, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil

    Maria Angélica F. D. Lima, Anna Cláudia E. Santos & Fernando R. Vargas

  3. Departamento de Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

    Anna Cláudia E. Santos & Fernando R. Vargas

  4. Fundação Oswaldo Cruz, Rio de Janeiro, Brazil

    Jesus P. Ramos

  5. Serviço de Genética, Instituto Português de Oncologia do Porto, Porto, Portugal

    Ana Peixoto & Manuel R. Teixeira

Authors
  1. Miguel A. M. Moreira
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  2. Irina G. Bobrovnitchaia
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  3. Maria Angélica F. D. Lima
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  4. Anna Cláudia E. Santos
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  5. Jesus P. Ramos
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  6. Kelly R. L. Souza
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  7. Ana Peixoto
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  8. Manuel R. Teixeira
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  9. Fernando R. Vargas
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Corresponding author

Correspondence to Fernando R. Vargas.

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Moreira, M.A.M., Bobrovnitchaia, I.G., Lima, M.A.F.D. et al. Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype. Familial Cancer 11, 657–660 (2012). https://doi.org/10.1007/s10689-012-9551-5

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  • DOI: https://doi.org/10.1007/s10689-012-9551-5

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