Article
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
JNCI cancer spectrum - 1 Apr 2021
Kim Jung, Gianferante Matthew, Karyadi Danielle M, Hartley Stephen W, Frone Megan N, Luo Wen, Robison Leslie L, Armstrong Gregory T, Bhatia Smita, Dean Michael, Yeager Meredith, Zhu Bin, Song Lei, Sampson Joshua N, Yasui Yutaka, Leisenring Wendy M, Brodie Seth A, de Andrade Kelvin C, Fortes Fernanda P, Goldstein Alisa M, Khincha Payal P, Machiela Mitchell J, McMaster Mary L, Nickerson Michael L, Oba Leatrisse, Pemov Alexander, Pinheiro Maisa, Rotunno Melissa, Santiago Karina, Wegman-Ostrosky Talia, Diver W Ryan, Teras Lauren, Freedman Neal D, Hicks Belynda D, Zhu Bin, Wang Mingyi, Jones Kristine, Hutchinson Amy A, Dagnall Casey, Savage Sharon A, Tucker Margaret A, Chanock Stephen J, Morton Lindsay M, Stewart Douglas R, Mirabello Lisa
Abstract excerpt
Background: 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....
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