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Friedrich, U.A. ; Bienias, M.* ; Zinke, C.* ; Prazenicova, M.* ; Lohse, J.* ; Jahn, A.* ; Menzel, M.* ; Langanke, J.* ; Walter, C.* ; Wagener, R.* ; Brozou, T.* ; Varghese, J.* ; Dugas, M.* ; Erlacher, M.* ; Schrock, E.* ; Suttorp, M.* ; Borkhardt, A.* ; Hauer, J.* ; Auer, F.*

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

Genet. Med. 25:100875 (2023)
Verlagsversion DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
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 state-of-the-art clinical checklist to the corresponding exome sequencing analysis in an unselected single-center cohort of 139 child-parent data sets. RESULTS: In total, one-third of patients had a clinical indication for genetic testing according to current recommendations, and 10.1% (14 of 139) of children harbored a cancer predisposition. Of these, 71.4% (10 of 14) were identified through the clinical checklist. In addition, >2 clinical findings in the checklist increased the likelihood to identifying genetic predisposition from 12.5% to 50%. Furthermore, our data revealed a high rate of genetic predisposition (40%, 4 of 10) in myelodysplastic syndrome cases, while no (likely) pathogenic variants were identified in the sarcoma and lymphoma group. CONCLUSION: In summary, our data show high checklist sensitivity, particularly in identifying childhood cancer predisposition syndromes. Nevertheless, the checklist used here also missed 29% of children with a cancer predisposition, highlighting the drawbacks of sole clinical evaluation and underlining the need for routine germline sequencing in pediatric oncology.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Clinical Checklists ; Genetic Testing ; Germline Cancer Predisposition ; Pediatric Cancer ; Trio Sequencing; Variants
ISSN (print) / ISBN 1530-0366
e-ISSN 1098-3600
Zeitschrift Genetics in Medicine
Quellenangaben Band: 25, Heft: 8, Seiten: , Artikelnummer: 100875 Supplement: ,
Verlag Lippincott Williams & Wilkins
Verlagsort Baltimore, Md.
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute for Pancreatic Beta Cell Research (IPI)
Förderungen
Sonnenstrahl e.V. Dresden -~Forderkreis fur krebskranke Kinder und Jugendliche
Mitteldeutsche Kinderkrebsforschung
Menschen fur Kinder e.V.
German Cancer Aid (Deutsche Krebshilfe, DKH) Exzellenz Forderprorgamm fur etablierte Wissenschaftlerinnen und Wissenschaftler
ERA Per Med.JTC 2018 "GEPARD"
ERC