Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors – a nationwide, prospective Swedish study

Bianca Tesi, Kristina Lagerstedt Robinson, Frida Abel,Teresita Díaz de Ståhl, Sara Orrsjö, Anna Poluha,Maria Hellberg, Sandra Wessman, Sofie Samuelsson, Tony Frisk, Hartmut Vogt, Karin Henning, Magnus Sabel, Torben Ek, Niklas Pal, Per Nyman, Geraldine Giraud et al.

The Lancet Regional Health Europe, March 2024 | https://doi.org/10.1016/j.lanepe.2024.100881

Background Childhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood cancer development. Yet, due to variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective ChiCaP study that investigated diagnostic yield and clinical impact of integrating germline whole-genome sequencing (gWGS) with tumor sequencing and systematic phenotyping in children with solid tumors.