Article
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.
Journal of medical genetics - 21 Dec 2023
Carvalho Nathalia de Angelis de, Santiago Karina Miranda, Maia Joyce Maria Lisboa, Costa Felipe D'Almeida, Formiga Maria Nirvana, Soares Diogo Cordeiro de Queiroz, Paixão Daniele, Mello Celso Abdon Lopes de, Costa Cecilia Maria Lima da, Rocha José Claudio Casali da, Rivera Barbara, Carraro Dirce Maria, Torrezan Giovana Tardin
Abstract excerpt
BACKGROUND: Sarcomas are a rare and diverse group of cancers occurring mainly in young individuals for which an underlying germline genetic cause remains unclear in most cases. METHODS: Germline DNA from 177 children, adolescents and young adults with soft tissue or bone sarcomas was tested using multigene panels with 113 or 126 cancer predisposing genes (CPGs) to describe the prevalence of germline...
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