Clinical criteria for genetic testing in pediatric oncology show a low specificity and miss every 4th child carrying a cancer predisposition
Ulrike Anne Friedrich, Marc Bienias, Claudia Zinke, Maria Prazenicova, Judith Lohse, Arne Jahn, Maria Menzel, Jonas Langanke, Carolin Walter, Rabea Wagener, Triantafyllia Brozou, Julian Varghese, Martin Dugas, Evelin Schröck, Meinolf Suttorp, , Franziska Auer
The paper evaluates clinical checklists for genetic testing in pediatric oncology, finding low specificity and missing 25% of children with cancer predisposition variants.
medRxiv · Oct 22, 2022 · PreprintGenetic & Genomic Medicine