A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children.

doi:10.1016/j.gim.2023.100875

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A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2023

Friedrich Ulrike A, Bienias Marc, Zinke Claudia, Prazenicova Maria, Lohse Judith, Jahn Arne, Menzel Maria, Langanke Jonas, Walter Carolin, Wagener Rabea, Brozou Triantafyllia, Varghese Julian, Dugas Martin, Erlacher Miriam, Schröck Evelin, Suttorp Meinolf, Borkhardt Arndt, Hauer Julia, Auer Franziska

Abstract excerpt

PURPOSE: Clinical checklists are the standard of care to determine whether a child with cancer shows indications for genetic testing. Nevertheless, the efficacy of these tests to reliably detect genetic cancer predisposition in children with cancer is still insufficiently investigated. METHODS: We assessed the validity of clinically recognizable signs to identify cancer predisposition by correlating a...

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PMID: 37149759
DOI: 10.1016/j.gim.2023.100875

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