Clin Oncol | Volume 6, Issue 1 | Review Article | Open Access

Pediatric Cancer Predisposition Documentation Tool - Standardized Reporting Form for Children and Adolescents with Suspected Cancer Predisposition Syndrome

Juliane Hoyer1#, Ines B Brecht2,16#, Tim Ripperger3, Axel Karow4, Arndt Borkhardt5, Triantafyllia Brozou5, Gianni Cazzaniga6, Martin Ebinger1, Roula Farah7, Susana García Obregón8, Julia Hauer9,10, Ariana Kamawal4, Geertruijte Kronnie11, Michaela Kuhlen12, Jelena Lazic13, Olli Lohi14, Ugur Özbek15, Antonio Pérez-Martínez16, Olaf Rieß17, Dominik T Schneider18,  Martin Schrappe19, Christopher Schroeder17, Stefanie Zimmermann20, Christian Thiel2, Evelin Schroeck10,21, André Reis2, Brigitte Schlegelberger3 and Markus Metzler4*

1Institute of Human Genetics, University of Erlangen-Nuremberg, Germany
2Department of Pediatric Hematology/Oncology, University Children’s Hospital Tuebingen, Germany
3Department of Human Genetics, Hannover Medical School, Hannover, Germany
4Department of Pediatrics and Adolescent Medicine, University of Erlangen-Nuremberg, Germany
5Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich Heine University, Germany
6Centro RicercaTettamanti, Pediatric Clinic University of Milano-Bicocca, Italy
7LAU Medical Center-Rizk Hospital, Lebanon
8Pediatric Oncology Group, Biocruces Bizkaia Heatlh Research Institute, Spain
9Department of Pediatrics, Pediatric Hematology and Oncology, University Hospital Carl Gustav Carus, Germany
10National Center for Tumor Diseases (NCT), Germany
11Department of Women's and Children's Health, University of Padova, Italy
12University Children’s Hospital Augsburg, Swabian Children’s Cancer Centre, Germany
13Department for Hematology and Oncology, University of Belgrade, Serbia
14Department of Pediatrics, Tampere University and Tampere University Hospital, Finland
15Department of Medical Genetics, Acibadem University School of Medicine, Turkey
16Department of Pediatric Hematology and Oncology, University Hospital La Paz, Spain
17Institute of Medical Genetics and Applied Genomics, University Hospital Tuebingen, Germany
18Clinic of Pediatrics, Germany
19Department of Pediatrics, University Hospital Schleswig-Holstein, Germany
20Hospital for Children and Adolescents, Goethe-University Frankfurt, Germany
21Institute for Clinical Genetics, German Cancer Research Center, Germany
#these authors contributed equally to the work

*Correspondance to: Markus Metzler 

Fulltext PDF


More comprehensive genetic diagnostics in children with cancer, enabled by modern sequencing techniques have shown that germline variants causing genetic cancer predisposition can be detected in an increasing proportion of patients. Many individuals carrying a predisposing germline variant exhibit distinct characteristics regarding family history, tumor type, age at manifestation and therapy toxicity. However, comprehensive phenotypic characterization and automated electronic documentation in searchable databases are essential to fully integrate genetic and clinical features. Therefore, we have developed a structured questionnaire, the Pediatric Cancer Predisposition Tool - PERCEPT to facilitate more accurate documentation of even subtle clinical features of patients with or with suspected germline cancer predisposition or suspected germline cancer predisposition. It could improve the comparability in multicentre studies and the automated recognition of phenotypic patterns in international searchable databases.


Hoyer J, Brecht IB, Ripperger T, Karow A, Borkhardt A, Brozou T, et al. Pediatric Cancer Predisposition Documentation Tool - Standardized Reporting Form for Children and Adolescents with Suspected Cancer Predisposition Syndrome. Clin Oncol. 2021;6:1844..

Subscribe to Our Newsletter