Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.

Jette J Bakhuizen,Saskia M J Hopman,Machteld I Bosscha,Charlotte J Dommering,Marry M van den Heuvel-Eibrink,Janna A Hol,Lennart A Kester,Marco J Koudijs,Karin P S Langenberg,Jan L C Loeffen,Jasper van der Lugt,Annette C Moll,Max M van Noesel,Stephanie E Smetsers,Evelien de Vos-Kerkhof,Johannes H M Merks,Roland P Kuiper,Marjolijn C J Jongmans

JAMA network open（2023）

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摘要

In this cohort study of children with a neoplasm, the prevalence of CPSs identified by a phenotype-driven approach was 8.6%. The diagnostic approach for identifying CPSs is currently shifting toward a genotype-first approach. Future studies are needed to determine the diagnostic value, as well as possible disadvantages of CPS gene sequencing among all children with cancer compared with the phenotype-driven approach.

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cancer predisposition syndromes

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