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

Renata Lazari Sandoval Cibele Masotti Mariana Petaccia de Macedo Maurício Fernando Silva Almeida RibeiroAna Carolina Rathsam LeiteSibele Inacio MeirelesRodrigo Medeiros BovolinFernando Costa SantiniRodrigo Ramella MunhozDenis Leonardo Fontes Jardim Artur Katz Anamaria Aranha Camargo Gustavo Dos Santos FernandesMaria Isabel Achatz

Published in: JCO global oncology (2021)

The identification of the TP53 p.R337H variant in tumor genomic profiling should be a predictive finding of LFS in the Brazilian population and should prompt testing for germline status confirmation.

Keyphrases

dna repair
copy number
single cell
case report
gene expression
dna damage
genome wide
solid state