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Friedrich, Ulrike A.
[Verfasser:in];
Bienias, Marc
[Verfasser:in];
Zinke, Claudia
[Verfasser:in];
Prazenicova, Maria
[Verfasser:in];
Lohse, Judith
[Verfasser:in];
Jahn, Arne
[Verfasser:in];
Menzel, Maria
[Verfasser:in];
Langanke, Jonas
[Verfasser:in];
Walter, Carolin
[Verfasser:in];
Wagener, Rabea
[Verfasser:in];
Brozou, Triantafyllia
[Verfasser:in];
Varghese, Julian
[Verfasser:in];
Dugas, Martin
[Verfasser:in];
Erlacher, Miriam
[Verfasser:in];
Schröck, Evelin
[Verfasser:in];
Suttorp, Meinolf
[Verfasser:in];
Borkhardt, Arndt
[Verfasser:in];
Hauer, Julia Christina
[Verfasser:in];
Auer, Franziska
[Verfasser:in]
A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children
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- Medientyp: E-Artikel
- Titel: A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children
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Weitere Titel:
Titel des übergeordneten Special issue: Obstetrics and gynecology
- Beteiligte: Friedrich, Ulrike A. [Verfasser:in]; Bienias, Marc [Verfasser:in]; Zinke, Claudia [Verfasser:in]; Prazenicova, Maria [Verfasser:in]; Lohse, Judith [Verfasser:in]; Jahn, Arne [Verfasser:in]; Menzel, Maria [Verfasser:in]; Langanke, Jonas [Verfasser:in]; Walter, Carolin [Verfasser:in]; Wagener, Rabea [Verfasser:in]; Brozou, Triantafyllia [Verfasser:in]; Varghese, Julian [Verfasser:in]; Dugas, Martin [Verfasser:in]; Erlacher, Miriam [Verfasser:in]; Schröck, Evelin [Verfasser:in]; Suttorp, Meinolf [Verfasser:in]; Borkhardt, Arndt [Verfasser:in]; Hauer, Julia Christina [Verfasser:in]; Auer, Franziska [Verfasser:in]
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Erschienen:
August 2023
- Erschienen in: Genetics in medicine ; 25(2023), 8 vom: Aug., Artikel-ID 100875, Seite 1-11
- Sprache: Englisch
- DOI: 10.1016/j.gim.2023.100875
- Identifikator:
- Schlagwörter: Clinical checklists ; Genetic testing ; Germline cancer predisposition ; Pediatric cancer ; Trio sequencing
- Entstehung:
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Anmerkungen:
Online veröffentlicht: 3. Mai 2023
- Beschreibung: 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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