%0 Journal Article
%A Friedrich, Ulrike Anne
%A Bienias, Marc
%A Zinke, Claudia
%A Prazenicova, Maria
%A Lohse, Judith
%A Jahn, Arne
%A Menzel, Maria
%A Langanke, Jonas
%A Walter, Carolin
%A Wagener, Rabea
%A Brozou, Triantafyllia
%A Varghese, Julian
%A Dugas, Martin
%A Erlacher, Miriam
%A Schröck, Evelin
%A Suttorp, Meinolf
%A Borkhardt, Arndt
%A Hauer, Julia
%A Auer, Franziska
%T A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children.
%J Genetics in medicine
%V 25
%N 8
%@ 1098-3600
%C London, UK
%I Springer Nature
%M DKFZ-2023-00914
%P 100875
%D 2023
%Z 2023 May 3;25(8):100875
%X 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.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 datasets.In total, 1/3rd of patients had a clinical indication for genetic testing according to current recommendations and 10.1
%K Pediatric cancer (Other)
%K Trio-Sequencing (Other)
%K clinical checklists (Other)
%K genetic testing (Other)
%K germline cancer predisposition (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:37149759
%R 10.1016/j.gim.2023.100875
%U https://inrepo02.dkfz.de/record/275926