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

Li-Fraumeni syndrome (LFS) is rare in the worldwide population, but it is highly prevalent in the Brazilian population because of a founder mutation, TP53 p.R337H, accounting for 0.3% of south and southeastern population. Clinical criteria for LFS may not identify all individuals at risk of carrying...

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Detalles Bibliográficos
Autores principales: Sandoval, Renata Lazari, Masotti, Cibele, de Macedo, Mariana Petaccia, Ribeiro, Maurício Fernando Silva Almeida, Leite, Ana Carolina Rathsam, Meireles, Sibele Inacio, Bovolin, Rodrigo Medeiros, Santini, Fernando Costa, Munhoz, Rodrigo Ramella, Jardim, Denis Leonardo Fontes, Katz, Artur, Camargo, Anamaria Aranha, Fernandes, Gustavo dos Santos, Achatz, Maria Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2021
Materias:
ORIGINAL REPORTS
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457781/
https://www.ncbi.nlm.nih.gov/pubmed/34270331
http://dx.doi.org/10.1200/GO.21.00097

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