{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T04:58:23Z","timestamp":1772600303191,"version":"3.50.1"},"reference-count":9,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2021,12,27]],"date-time":"2021-12-27T00:00:00Z","timestamp":1640563200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,12,27]],"date-time":"2021-12-27T00:00:00Z","timestamp":1640563200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oncology"],"published-print":{"date-parts":[[2022]]},"abstract":"Brain tumors affect one-third of all children with cancer. Approximately 10% of children with cancer carry variants in cancer-predisposition genes. However, germline analyses in large cohorts of Asian children have not been reported. Thirty-eight Japanese patients with pediatric brain tumors were included in this study (19 boys, 19 girls). DNA was extracted from the patients\u2019 peripheral blood, and cancer-associated genes were analyzed using targeted resequencing. Rare variants with allele frequencies &#x3c;0.1% in the general population and variants suspected to be pathogenic were extracted and analyzed. Pathogenic variants were found in 7 patients (18%): 2 nonsense variants of <i>CHEK2<\/i> and <i>FANCI<\/i>; 2 frameshift deletions in <i>SMARCB1<\/i> and <i>PTCH1<\/i>; and 3 missense variants of <i>TSC1, WRN,<\/i> and <i>MLH1<\/i>. The median age at diagnosis was 9.1 years, and three of the 7 patients had a family history of cancer. One patient diagnosed with basal cell nevus syndrome, also called Gorlin syndrome, developed a second neoplasm, and another with an <i>SMARCB1<\/i> variant and an atypical teratoid\/rhabdoid tumor developed a thyroid adenomatous nodule. This is the first cancer-related germline analysis with detailed clinical information reported in Japanese children with brain tumors. The prevalence was almost equivalent to that in white children. <\/jats:p>","DOI":"10.1159\/000521621","type":"journal-article","created":{"date-parts":[[2021,12,27]],"date-time":"2021-12-27T22:00:35Z","timestamp":1640642435000},"page":"163-172","source":"Crossref","is-referenced-by-count":6,"title":["Cancer-Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan"],"prefix":"10.1159","volume":"100","author":[{"given":"Hiroko","family":"Fukushima","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryoko","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4287-5713","authenticated-orcid":false,"given":"Yuni","family":"Yamaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sho","family":"Hosaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masako","family":"Inaba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4983-6306","authenticated-orcid":false,"given":"Ai","family":"Muroi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8914-9711","authenticated-orcid":false,"given":"Takao","family":"Tsurubuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wataru","family":"Morii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emiko","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetoshi","family":"Takada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,12,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0638-4"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks539"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr407"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.26460"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2004.11.014"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpc.2020.106433"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-021-02371-3"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12647"}],"container-title":["Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/521621","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/521621","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:42:14Z","timestamp":1745422934000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000521621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,27]]},"references-count":9,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,3,1]]},"published-print":{"date-parts":[[2022,3,8]]}},"URL":"https:\/\/doi.org\/10.1159\/000521621","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.17694641","asserted-by":"subject"}]},"ISSN":["0030-2414","1423-0232"],"issn-type":[{"value":"0030-2414","type":"print"},{"value":"1423-0232","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,27]]}}}