Christopher Schroeder, Ulrike Faust, Luisa Krauße, Alexandra Liebmann, Michael Abele, German Demidov, Leon Schütz, Olga Kelemen, Alexandra Pohle, Silja Gauß, Marc Sturm, Cristiana Roggia, Monika Streiter, Rebecca Buchert, Sorin Armenau-Ebinger, Dominik Nann, Rudi Beschorner, Rupert Handgretinger, Martin Ebinger, Peter Lang, Ursula Holzer, Julia Skokowa, Stephan Ossowski, Tobias B Haack, Ulrike A Mau-Holzmann, Andreas Dufke, Olaf Riess, Ines B Brecht
The prevalence of pathogenic and likely pathogenic (P/LP) variants in genes associated with cancer predisposition syndromes (CPS) is estimated to be 8-18% for paediatric cancer patients. In more than half of the carriers, the family history is unsuspicious for CPS. Therefore, broad genetic testing could identify germline predisposition in additional children with cancer resulting in important implications for themselves and their families. We thus evaluated clinical trio genome sequencing (TGS) in a cohort of 72 paediatric patients with solid cancers other than retinoblastoma or CNS-tumours...
October 2023: European Journal of Human Genetics: EJHG