Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study.

doi:10.1016/S2352-4642(24)00144-5

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Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study.

The Lancet. Child & adolescent health - 1 Oct 2024

Bakhuizen Jette J, van Dijk Freerk, Koudijs Marco J, Bladergroen Reno S, Bon Sebastian B B, Hopman Saskia M J, Kester Lennart A, Kranendonk Mariëtte E G, Loeffen Jan L C, Smetsers Stephanie E, Sonneveld Edwin, Tachdjian Melissa, de Vos-Kerkhof Evelien, Goudie Catherine, Merks Johannes H M, Kuiper Roland P, Jongmans Marjolijn C J

Abstract excerpt

BACKGROUND: Germline data have become widely available in paediatric oncology since the introduction of paired tumour-germline sequencing. To guide best practice in cancer predisposition syndrome (CPS) diagnostics, we aimed to assess the diagnostic yield of extensive germline analysis compared with clinical selection-based genetic testing among all children with cancer. METHODS: In this prospective diagnostic...

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PMID: 39159644
DOI: 10.1016/S2352-4642(24)00144-5

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