{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T02:09:22Z","timestamp":1791425362816,"version":"4.3.3"},"reference-count":57,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2021,1,23]],"date-time":"2021-01-23T00:00:00Z","timestamp":1611360000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Intramural Research Program of the Division of Cancer\n Epidemiology and Genetics of the National Cancer\n Institute"},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["CA55727"],"award-info":[{"award-number":["CA55727"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"name":"St. Jude Children\u2019s Research Hospital through the\n National Cancer Institute Cancer Center Support","award":["CA21765"],"award-info":[{"award-number":["CA21765"]}]},{"DOI":"10.13039\/100012524","name":"American Lebanese-Syrian Associated Charities","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012524","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,9]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Exome sequencing was conducted on germline DNA from 5451 pediatric cancer survivors (cases who survived \u22655\u2009years from diagnosis; n\u2009=\u20095105 European) and 597 European cancer-free adults (controls). Analyses focused on comparing the frequency of rare P\/LP variants in 237 cancer-susceptibility genes and a subset of 60 autosomal dominant high-to-moderate penetrance genes, for both case-case and case-control comparisons.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Of European cases, 4.1% harbored a P\/LP variant in high-to-moderate penetrance autosomal dominant genes compared with 1.3% in controls (2-sided P\u2009=\u20093 \u00d7 10-4). The highest frequency of P\/LP variants was in genes typically associated with adult onset rather than pediatric cancers, including BRCA1\/2, FH, PALB2, PMS2, and CDKN2A. A statistically significant excess of P\/LP variants, after correction for multiple tests, was detected in patients with central nervous system cancers (NF1, SUFU, TSC1, PTCH2), Wilms tumor (WT1, REST), non-Hodgkin lymphoma (PMS2), and soft tissue sarcomas (SDHB, DICER1, TP53, ERCC4, FGFR3) compared with other pediatric cancers.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n In long-term pediatric cancer survivors, we identified P\/LP variants in cancer-susceptibility genes not previously associated with pediatric cancer as well as confirmed known associations. Further characterization of variants in these genes in pediatric cancer will be important to provide optimal genetic counseling for patients and their families.<\/jats:p>\n <\/jats:sec>","DOI":"10.1093\/jncics\/pkab007","type":"journal-article","created":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T00:19:43Z","timestamp":1610497183000},"source":"Crossref","is-referenced-by-count":47,"title":["Frequency of Pathogenic Germline Variants in Cancer-Susceptibility\n Genes in the Childhood Cancer Survivor Study"],"prefix":"10.1093","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6274-2841","authenticated-orcid":false,"given":"Jung","family":"Kim","sequence":"first","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Gianferante","sequence":"additional","affiliation":[{"name":"Division of Cancer 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Luo","sequence":"additional","affiliation":[{"name":"Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie L","family":"Robison","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Cancer Control, St. Jude Children\u2019s Research Hospital, Memphis, TN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory T","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Cancer Control, St. Jude Children\u2019s Research Hospital, Memphis, TN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smita","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Institute for Cancer Outcomes and Survivorship, University of Alabama at Birmingham, Birmingham, AL, 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National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Song","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2875-3365","authenticated-orcid":false,"given":"Joshua N","family":"Sampson","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7717-8638","authenticated-orcid":false,"given":"Yutaka","family":"Yasui","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Cancer Control, St. Jude Children\u2019s Research Hospital, Memphis, TN, 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