{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:38:06Z","timestamp":1787017086332,"version":"build-2736575974"},"reference-count":27,"publisher":"BMJ","issue":"10","funder":[{"DOI":"10.13039\/100015539","name":"Australian Government","doi-asserted-by":"publisher","award":["Research Training Program (RTP) Scholarship"],"award-info":[{"award-number":["Research Training Program (RTP) Scholarship"]}],"id":[{"id":"10.13039\/100015539","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["148390"],"award-info":[{"award-number":["148390"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["Grant 5 U01 HG006485"],"award-info":[{"award-number":["Grant 5 U01 HG006485"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"name":"QIMR Berghofer HDC","award":["PhD Top Up Scholarship"],"award-info":[{"award-number":["PhD Top Up Scholarship"]}]},{"DOI":"10.13039\/501100017473","name":"Australian Genomics Health Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100017473","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1113531, 2000001"],"award-info":[{"award-number":["1113531, 2000001"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2023,2,6]]},"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:p>\n                    Heterozygous germline pathogenic variants (GPVs) in\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    , the gene encoding the ATP-dependent chromatin remodelling protein SMARCA4 (previously known as BRG1), predispose to several rare tumour types, including small cell carcinoma of the ovary, hypercalcaemic type, atypical teratoid and malignant rhabdoid tumour, and uterine sarcoma. The increase in germline testing of\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    in recent years has revealed putative GPVs affecting\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    in patients with other cancer types. Here we describe 11 patients with neuroblastoma (NBL), including 4 previously unreported cases, all of whom were found to harbour heterozygous germline variants in\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    . Median age at diagnosis was 5 years (range 2 months\u201326 years); nine were male; and eight of nine cases had tumour location information in the adrenal gland. Eight of the germline variants were expected to result in loss of function of\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    (large deletion, truncating and canonical splice variants), while the remaining four were missense variants. Loss of heterozygosity of the wild-type\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    allele was found in all eight cases where somatic testing was performed, supporting the notion that SMARCA4 functions as a classic tumour suppressor. Altogether, these findings strongly suggest that NBL should be included in the spectrum of\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    -associated tumours.\n                  <\/jats:p>","DOI":"10.1136\/jmg-2022-108854","type":"journal-article","created":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T13:21:20Z","timestamp":1677072080000},"page":"987-992","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":21,"title":["Germline pathogenic\n                    <i>SMARCA4<\/i>\n                    variants in neuroblastoma"],"prefix":"10.1136","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5736-2534","authenticated-orcid":false,"given":"Leora","family":"Witkowski","sequence":"first","affiliation":[{"name":"Core Molecular Diagnostic Laboratory, McGill University Health Centre, Montreal, Qu\u00e9bec, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5581-6555","authenticated-orcid":false,"given":"Kim E.","family":"Nichols","sequence":"additional","affiliation":[{"name":"Department of Oncology, St Jude Children's Research Hospital, Memphis, Tennessee, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6572-4374","authenticated-orcid":false,"given":"Marjolijn","family":"Jongmans","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nienke","family":"van Engelen","sequence":"additional","affiliation":[{"name":"Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald R","family":"de Krijger","sequence":"additional","affiliation":[{"name":"Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands"},{"name":"Department of Pathology, University Medical Centre Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Herrera-Mullar","sequence":"additional","affiliation":[{"name":"Ambry Genetics Corp, Aliso Viejo, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lieve","family":"Tytgat","sequence":"additional","affiliation":[{"name":"Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armita","family":"Bahrami","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, Georgia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Mar Fan","sequence":"additional","affiliation":[{"name":"Genetic Health Queensland, The University of Queensland, Brisbane, Queensland, Australia"},{"name":"Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimee L","family":"Davidson","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia"},{"name":"QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Robertson","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia"},{"name":"Pathology Queensland, Queensland Health, Brisbane, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Anderson","sequence":"additional","affiliation":[{"name":"Invitae Corporation, San Francisco, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Hasselblatt","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, University Hospital M\u00fcnster, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon E.","family":"Plon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\/Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7427-4651","authenticated-orcid":false,"given":"William D","family":"Foulkes","sequence":"additional","affiliation":[{"name":"Lady Davis Institute and Segal Cancer Centre, Sir Mortimer B Davis Jewish General Hospital, Montreal, Qu\u00e9bec, Canada"},{"name":"Research Institute of the McGill University Health Centre, Montreal, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,2,22]]},"reference":[{"key":"2025101713194192000_60.10.987.1","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.ygyno.2019.10.031","article-title":"Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: clinical features of a single family and comparison of large cohorts","volume":"157","author":"Connor","year":"2020","journal-title":"Gynecol Oncol"},{"key":"2025101713194192000_60.10.987.2","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1038\/s41379-019-0303-z","article-title":"SMARCA4 inactivation defines a subset of undifferentiated uterine sarcomas with rhabdoid and small cell features and germline mutation 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