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BIBTEX RIS

Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study

2021; Oxford University Press; Volume: 5; Issue: 2 Linguagem: Inglês

10.1093/jncics/pkab007

2515-5091

Jung Kim, Matthew Gianferante, Danielle M. Karyadi, Stephen W. Hartley, Megan N. Frone, Wen Luo, Leslie L. Robison, Gregory T. Armstrong, Smita Bhatia, Michael Dean, Meredith Yeager, Bin Zhu, Lei Song, Joshua N. Sampson, Yutaka Yasui, Wendy M. Leisenring, Seth A. Brodie, Kelvin C. de Andrade, Fabio da Silva de Azevedo Fortes, Alisa M. Goldstein, Payal P. Khincha, Mitchell J. Machiela, Mary L. McMaster, Michael L. Nickerson, Leatrisse Oba, Alexander Pemov, Maísa Pinheiro, Melissa Rotunno, Karina Miranda Santiago, Talía Wegman-Ostrosky, W. Ryan Diver, Lauren R. Teras, Neal D. Freedman, Belynda Hicks, Bin Zhu, Mingyi Wang, Kristine Jones, Amy Hutchinson, Casey Dagnall, Sharon A. Savage, Margaret A. Tucker, Stephen J. Chanock, Lindsay M. Morton, Douglas R. Stewart, Kari G. Rabe,

DNA Repair Mechanisms

Pediatric cancers are the leading cause of death by disease in children despite improved survival rates overall. The contribution of germline genetic susceptibility to pediatric cancer survivors has not been extensively characterized. We assessed the frequency of pathogenic or likely pathogenic (P/LP) variants in 5451 long-term pediatric cancer survivors from the Childhood Cancer Survivor Study.