Artigo Acesso aberto Produção Nacional Revisado por pares

Identification of the TP53 p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome

2021; Lippincott Williams & Wilkins; Issue: 7 Linguagem: Inglês

10.1200/go.21.00097

ISSN

2687-8941

Autores

Renata Lazari Sandoval, Cibele Masotti, Mariana Petaccia de Macêdo, Maurício Fernando Silva Almeida Ribeiro, Ana Carolina Rathsam Leite, Sibele I. Meireles, Rodrigo Medeiros Bovolin, Fernando C. Santini, Rodrigo Ramella Munhoz, Denis L. Jardim, Artur Katz, Anamaria A. Camargo, Gustavo dos Santos Fernandes, Maria Isabel Achatz,

Tópico(s)

Cancer Genomics and Diagnostics

Resumo

Li-Fraumeni syndrome (LFS) is rare in the worldwide population, but it is highly prevalent in the Brazilian population because of a founder mutation,

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