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Investigation of DNA damage response genes validates the role of DNA repair in pediatric cancer risk and identifies SMARCAL1 as a novel osteosarcoma predisposition gene

PURPOSE Recent studies reveal that 5%-18% of children with cancer harbor pathogenic variants in known cancer-predisposing genes. However, DNA damage repair (DDR) genes, which are frequently somatically altered in pediatric tumors, have not been systematically examined as a source of novel cancer-pre...

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Detalles Bibliográficos
Autores principales: Oak, Ninad (Autor) , Chen, Wenan (Autor) , Blake, Alise (Autor) , Harrison, Lynn (Autor) , O'Brien, Martha (Autor) , Previti, A. Christopher (Autor) , Balasubramanian, Gnanaprakash (Autor) , Maaß, Kendra K. (Autor) , Hirsch, Steffen (Autor) , Penkert, Judith (Autor) , Jones, Barbara Christine (Autor) , Schramm, Kathrin (Autor) , Nathrath, Michaela (Autor) , Pajtler, Kristian Wilfried (Autor) , Jones, David T. W. (Autor) , Witt, Olaf (Autor) , Dirksen, Uta (Autor) , Li, Jiaming (Autor) , Sapkota, Yadav (Autor) , Ness, Kirsten K. (Autor) , Guenther, Lillian M. (Autor) , Pfister, Stefan M. (Autor) , Kratz, Christian (Autor) , Wang, Zhaoming (Autor) , Armstrong, Greg T. (Autor) , Hudson, Melissa M. (Autor) , Wu, Gang (Autor) , Autry, Robert (Autor) , Nichols, Kim E. (Autor) , Sharma, Richa (Autor)
Formato: Article (Journal)
Lenguaje:inglés
Publicado: October 09, 2025
In: Journal of clinical oncology
Year: 2025, Volumen: 43, Número: 36, Pages: 3833-3843
ISSN:1527-7755
DOI:10.1200/JCO-25-01114
Acceso en línea:Verlag, kostenfrei, Volltext: https://doi.org/10.1200/JCO-25-01114
Verlag, kostenfrei, Volltext: https://ascopubs.org/doi/10.1200/JCO-25-01114
Enlace del recurso
Notas de Autor:Ninad Oak, Wenan Chen, Alise Blake, Lynn Harrison, Martha O'Brien, Christopher Previti, Gnanaprakash Balasubramanian, Kendra Maass, Steffen Hirsch, Judith Penkert, Barbara C. Jones, Kathrin Schramm, Michaela Nathrath, Kristian W. Pajtler, David T.W. Jones, Olaf Witt, Uta Dirksen, Jiaming Li, Yadav Sapkota, Kirsten K. Ness, Lillian M. Guenther, Stefan M. Pfister, Christian Kratz, Zhaoming Wang, Greg T. Armstrong, Melissa M. Hudson, Gang Wu, Robert J. Autry, Kim E. Nichols, and Richa Sharma
Descripción
Sumario:PURPOSE Recent studies reveal that 5%-18% of children with cancer harbor pathogenic variants in known cancer-predisposing genes. However, DNA damage repair (DDR) genes, which are frequently somatically altered in pediatric tumors, have not been systematically examined as a source of novel cancer-predisposing signals.
Notas:Gesehen am 03.06.2026
Descripción Física:Online Resource
ISSN:1527-7755
DOI:10.1200/JCO-25-01114

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