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Article

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

JAMA network open - 1 Feb 2023

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

Abstract excerpt

Importance: To improve diagnostics of cancer predisposition syndromes (CPSs) in children with cancer, it is essential to evaluate the effect of CPS gene sequencing among all children with cancer and compare it with genetic testing based on clinical selection. However, a reliable comparison is difficult because recent reports on a phenotype-first approach in large, unselected childhood cancer cohorts are lacking....

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Identifiers

PMID: 36735256
DOI: 10.1001/jamanetworkopen.2022.54157
PMCID: PMC9898819

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