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

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

PURPOSELi-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 c...

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Main Authors: Renata Lazari Sandoval, Cibele Masotti, Mariana Petaccia de Macedo, Maurício Fernando Silva Almeida Ribeiro, Ana Carolina Rathsam Leite, Sibele Inacio Meireles, Rodrigo Medeiros Bovolin, Fernando Costa Santini, Rodrigo Ramella Munhoz, Denis Leonardo Fontes Jardim, Artur Katz, Anamaria Aranha Camargo, Gustavo dos Santos Fernandes, Maria Isabel Achatz
Format: Article
Language:English
Published: American Society of Clinical Oncology 2021-12-01
Series:JCO Global Oncology
Online Access:https://ascopubs.org/doi/10.1200/GO.21.00097

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