Cancer Chemotherapy and Pharmacology

, Volume 84, Issue 6, pp 1359–1363 | Cite as

Prevalence of the DPYD variant (Y186C) in Brazilian individuals of African ancestry

  • Geraldo Felício Cunha-Junior
  • Luciana Bastos-Rodrigues
  • Pedro G. Azevedo
  • Maria Aparecida Bicalho
  • Luiz Alexandre V. Magno
  • Luiz De MarcoEmail author
  • Luiz Gonzaga Coelho
Short Communication



The presence of deleterious variants of dihydropyrimidine-dehydrogenase gene (DPYD) is associated with 5-Fluorouracil toxicity. Most of the data are based on findings in Caucasian populations. The variant Y186C (rs115232898) is found almost exclusively in African populations and is related to low DPD function. Its prevalence may vary among African subpopulations and in African Americans. There is no information in other populations. Brazil has the biggest African population outside Africa. We studied for the first time the frequency of this mutation in African Brazilians.


We amplified exon 6 of DPYD extracted from genomic DNA of 79 healthy volunteers of genetically defined African ancestry from Southeast Brazil and 36 self-reported African descendants from Northeast Brazil in order to determine the prevalence of the variant Y186C in Brazilians of African ancestry.


The variant Y186C was found in heterozygosity in two samples from Southeast (2.53%) and one from Northeast (2.77%) Brazil. Overall, the prevalence of this mutation in the 115 African Brazilians was 2.6%.


The variant Y186C is prevalent among Brazilians of African ancestry and should be taken in account in targeted genotyping for fluoropyrimidine risk variants.


DPYD variant Y186C 5-Fluorouracil 





The gene encoding DPD







This work was partially funded by Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) and Fundação de Amparo à Pesquisa de Minas Gerais (FAPEMIG), Brazil.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Geraldo Felício Cunha-Junior
    • 1
    • 2
  • Luciana Bastos-Rodrigues
    • 3
    • 5
  • Pedro G. Azevedo
    • 5
  • Maria Aparecida Bicalho
    • 1
    • 5
  • Luiz Alexandre V. Magno
    • 5
  • Luiz De Marco
    • 4
    • 5
    Email author
  • Luiz Gonzaga Coelho
    • 1
  1. 1.Department of Internal MedicineUniversidade Federal de Minas GeraisBelo HorizonteBrazil
  2. 2.Department of OncologyHospital da Baleia, Fundação Benjamim GuimarãesBelo HorizonteBrazil
  3. 3.Department of NutritionUniversidade Federal de Minas GeraisBelo HorizonteBrazil
  4. 4.Department of SurgeryFederal University of Minas GeraisBelo HorizonteBrazil
  5. 5.Molecular Medicine Technology CenterUniversidade Federal de Minas GeraisBelo HorizonteBrazil

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