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Frequency of the TP53 p.R337H mutation in a Brazilian cohort of pediatric patients with solid tumors

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Abstract

TP53 p.R337H germline mutation is highly prevalent in the Southern region of Brazil. We sought to investigate TP53 p.R337H mutation in pediatric tumor samples from a population settled in a geographic area of high prevalence for this variant. Mutation assessment and genetic counseling for carriers/relatives were provided. 6/57 tumor samples were heterozygous for TP53 p.R337H. As expected, a high frequency was observed within adrenocortical tumors (3/3) and choroid plexus carcinomas (2/2). Interestingly, the TP53 R337H mutation was found in one case of pediatric rhabdomyosarcoma with Li–Fraumeni pedigree. Our finding expands the spectrum of childhood cancer associated with this germline mutation.

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Fig. 1

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All data generated from this case description are presented in this article and supporting information material.

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Funding

This collaborative study was supported by the Brazilian Public Research Agency Fundação de Amparo a Pesquisa do Estado de São Paulo (FAPESP)—Grant 2014/20341-0, Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), Grant 457884/2014-2 and Fundação de Apoio ao Ensino, Pesquisa e Assistência do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (FAEPA).

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    Authors and Affiliations

    1. Department of Pediatrics, University of São Paulo, Ribeirão Preto, Brasil

      José Antonio da Silva Feitosa, Rosane Gomes de Paula Queiroz, Gustavo Alencastro Veiga Cruzeiro, Luiz Gonzaga Tone, Kleiton Silva Borges & Elvis Terci Valera

    2. Department of Genetics Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brasil

      Pablo Ferreira das Chagas, Graziella Ribeiro de Sousa & Luiz Gonzaga Tone

    3. Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, USA

      Gustavo Alencastro Veiga Cruzeiro

    4. Division of Endocrinology, Boston Children’s Hospital, Boston, USA

      Kleiton Silva Borges

    5. Department of Pediatrics, Harvard Medical School, Boston, USA

      Kleiton Silva Borges

    6. Center for Life Sciences, 16030.17, 3 Blackfan Circle, Boston, MA, 02115, USA

      Kleiton Silva Borges

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    1. José Antonio da Silva Feitosa
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    2. Pablo Ferreira das Chagas
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    8. Elvis Terci Valera
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    Contributions

    E.T.V, J.A.S.F. and K.B.S. planned and conducted data analysis and drafted the manuscript. G.R.S. and P.F.C. wrote and organized the data, created the figures/tables, and edited and finalized the manuscript. J.A.S.F, R.G.P.Q, G.A.V.C and L.G.T revised the text for important intellectual content. All authors critically read and approved the final manuscript.

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    Correspondence to Kleiton Silva Borges.

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    The authors declare that they have no competing interests.

    Informed consent

    Parents gave written informed consent for genetic studies and for the publication of data (available upon request). This case report was also IRB approved by The Ethics Committee in Human Research at Ribeirão Preto General Hospital and Ribeirão Preto Medical School (CAAE:09821219.0.0000.5440).

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    Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

    José Antonio da Silva Feitosa and Pablo Ferreira das Chagas are sharing co-first authorship.

    Kleiton Silva Borges and Elvis Terci Valera have contributed equally to this work.

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    Feitosa, J.A.d.S., das Chagas, P.F., de Sousa, G.R. et al. Frequency of the TP53 p.R337H mutation in a Brazilian cohort of pediatric patients with solid tumors. Mol Biol Rep 47, 6439–6443 (2020). https://doi.org/10.1007/s11033-020-05655-5

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    • DOI: https://doi.org/10.1007/s11033-020-05655-5

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