TY  - JOUR
AU  - Friedrich, Ulrike Anne
AU  - Bienias, Marc
AU  - Zinke, Claudia
AU  - Prazenicova, Maria
AU  - Lohse, Judith
AU  - Jahn, Arne
AU  - Menzel, Maria
AU  - Langanke, Jonas
AU  - Walter, Carolin
AU  - Wagener, Rabea
AU  - Brozou, Triantafyllia
AU  - Varghese, Julian
AU  - Dugas, Martin
AU  - Erlacher, Miriam
AU  - Schröck, Evelin
AU  - Suttorp, Meinolf
AU  - Borkhardt, Arndt
AU  - Hauer, Julia
AU  - Auer, Franziska
TI  - A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children.
JO  - Genetics in medicine
VL  - 25
IS  - 8
SN  - 1098-3600
CY  - London, UK
PB  - Springer Nature
M1  - DKFZ-2023-00914
SP  - 100875
PY  - 2023
N1  - 2023 May 3;25(8):100875
AB  - 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
KW  - Pediatric cancer (Other)
KW  - Trio-Sequencing (Other)
KW  - clinical checklists (Other)
KW  - genetic testing (Other)
KW  - germline cancer predisposition (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:37149759
DO  - DOI:10.1016/j.gim.2023.100875
UR  - https://inrepo02.dkfz.de/record/275926
ER  -