Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer
The high frequency of LoF variants, including in known CPS, emphasizes the need for systematic and extensive germline genomic mapping as part of the diagnostic workup of patients with childhood cancer and the linkage of such data to disease and response phenotypes to guide future pediatric oncological care and ultimately pave the way for prediagnostic interventional measures.
Authors
- Mads Bak (ORCID: https://orcid.org/0000-0003-2762-1002)
- Astrid Sehested (ORCID: https://orcid.org/0009-0004-4450-3539)
- Mette Klarskov Andersen (ORCID: https://orcid.org/0000-0003-2449-5565)
- Ulrik Kristoffer Stoltze (ORCID: https://orcid.org/0000-0001-5862-3292)
- Erik Sørensen (ORCID: https://orcid.org/0000-0002-5002-9077)
- Mimi Kjærsgaard (ORCID: https://orcid.org/0000-0001-7371-9890)
- Zeynep Tümer (ORCID: https://orcid.org/0000-0002-4777-5802)
- Bram L. Gorissen (ORCID: https://orcid.org/0000-0001-5992-0432)
- Thomas van Overeem Hansen (ORCID: https://orcid.org/0000-0003-4635-2653)
- René Mathiasen (ORCID: https://orcid.org/0000-0003-3782-7776)
- Anna Byrjalsen (ORCID: https://orcid.org/0000-0002-3470-5995)
- Astrid Saksager (ORCID: https://orcid.org/0000-0002-5026-9337)
- Charlotte Kvist Lautrup (ORCID: https://orcid.org/0000-0001-7549-885X)
- Torben Stamm Mikkelsen (ORCID: https://orcid.org/0000-0001-8188-2188)
- Jon Foss-Skiftesvik (ORCID: https://orcid.org/0000-0002-0259-8128)
- Marianne Olsen (ORCID: https://orcid.org/0009-0006-1724-0838)
- Jane Hübertz Frederiksen (ORCID: https://orcid.org/0000-0001-7719-4673)
- Jesper Brok (ORCID: https://orcid.org/0000-0003-2576-0228)
- Adrian Otamendi Laspiur (ORCID: https://orcid.org/0000-0001-5954-0915)
- Tina Elisabeth Olsen (ORCID: https://orcid.org/0000-0002-9471-472X)
- Sisse Rye Ostrowski (ORCID: https://orcid.org/0000-0001-5288-3851)
- Peder Skov Wehner (ORCID: https://orcid.org/0000-0003-3881-5179)
- David Scheie (ORCID: https://orcid.org/0000-0002-8692-1198)
- Karen Grønskov (ORCID: https://orcid.org/0000-0002-2341-1326)
- Ruta Tuckuviene (ORCID: https://orcid.org/0009-0007-2024-0553)
- Simon Rasmussen (ORCID: https://orcid.org/0000-0001-6323-9041)
- Henrik Hasle (ORCID: https://orcid.org/0000-0003-3976-9231)
- Kjeld Schmiegelow (ORCID: https://orcid.org/0000-0002-0829-4993)
- Kasper Amund Henriksen (ORCID: https://orcid.org/0000-0003-0237-9643)
- Anne‐Marie Gerdes (ORCID: https://orcid.org/0000-0002-0328-3320)
- Karin Wadt (ORCID: https://orcid.org/0000-0003-2882-6798)
- Lisa Lyngsie Hjalgrim (ORCID: https://orcid.org/0000-0001-5186-3365)
- Elena Papaleo (ORCID: https://orcid.org/0000-0002-7376-5894)
- Tina Duelund Hjortshøj (ORCID: https://orcid.org/0000-0002-3045-8990)
- Konrad J. Karczewski (ORCID: https://orcid.org/0000-0003-2878-4671)
Institutions
- Broad Institute (US)
- University of Copenhagen (DK)
- Aalborg University Hospital (DK)
- Novo Nordisk Foundation (DK)
- Odense University Hospital (DK)
- Aarhus University Hospital (DK)
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
- Massachusetts General Hospital (US)
- Capital Region of Denmark (DK)
- Danish Cancer Society (DK)
- Center for Genomic Science (IT)
- Aalborg University (DK)
- Technical University of Denmark (DK)
Publication Details
- Journal
- Clinical Cancer Research
- Published
- 2025-08-15
- DOI
- https://doi.org/10.1158/1078-0432.ccr-25-0153
- Primary Topic
- DNA Repair Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00