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

Juliane Hoyer, Ines B Brecht, Tim Ripperger, Axel Karow, Arndt Borkhardt, Triantafyllia Brozou, Gianni Cazzaniga, Martin Ebinger, Roula Farah, Susana García Obregón, Julia Hauer, Ariana Kamawal, Geertruijte Kronnie, Michaela Kuhlen, Jelena Lazic, Olli Lohi, Ugur Özbek, Antonio Pérez-Martínez, Olaf Rieß, Dominik T Schneider,  Martin Schrappe, Christopher Schroeder, Stefanie Zimmermann, Christian Thiel, Evelin Schroeck, André Reis, Brigitte Schlegelberger and Markus Metzler

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

^*Correspondance to: Markus Metzler 

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Abstract:

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.

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Cite the Article:

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..