{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:45:38Z","timestamp":1791852338927,"version":"4.3.4"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,11,24]],"date-time":"2010-11-24T00:00:00Z","timestamp":1290556800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH","award":["CA46274"],"award-info":[{"award-number":["CA46274"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood & Cancer"],"published-print":{"date-parts":[[2011,1]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Germline mutations and deletions of\n SMARCB1\/INI1<\/jats:italic>\n in chromosome band 22q11.2 predispose patients to rhabdoid tumor and schwannomatosis. Previous estimates suggested that 15\u201320% of rhabdoid tumors were caused by an underlying germline abnormality of\n SMARCB1<\/jats:italic>\n . However, these studies were limited by case selection and an inability to detect intragenic deletions and duplications.\n <\/jats:p>\n <\/jats:sec>\n \n Procedure<\/jats:title>\n \n One hundred matched tumor and blood samples from patients with rhabdoid tumors of the brain, kidney, or soft tissues were analyzed for mutations and deletions of\n SMARCB1<\/jats:italic>\n by FISH, multiplex ligation\u2010dependent probe amplification (MLPA), sequence analysis and high resolution Illumina 610K SNP\u2010based oligonucleotide array studies.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Thirty\u2010five of 100 patients were found to have a germline\n SMARCB1<\/jats:italic>\n abnormality. These abnormalities included point and frameshift mutations, intragenic deletions and duplications, and larger deletions including regions both proximal and distal to\n SMARCB1<\/jats:italic>\n . There were nine cases that demonstrated parent to child transmission of a mutated copy of\n SMARCB1<\/jats:italic>\n . In eight of the nine cases, one or more family members were also diagnosed with rhabdoid tumor or schwannoma, and two of the eight families presented with multiple affected children in a manner consistent with gonadal mosaicism.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Approximately one\u2010third of newly diagnosed patients with rhabdoid tumor have an underlying genetic predisposition to tumors due to a germline\n SMARCB1<\/jats:italic>\n alteration. Families may demonstrate incomplete penetrance and gonadal mosaicism, which must be considered when counseling families of patients with rhabdoid tumor. Pediatr Blood Cancer. 2010;56:7\u201315. \u00a9 2010 Wiley\u2010Liss, Inc.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/pbc.22831","type":"journal-article","created":{"date-parts":[[2010,11,24]],"date-time":"2010-11-24T09:56:51Z","timestamp":1290592611000},"page":"7-15","source":"Crossref","is-referenced-by-count":351,"title":["Spectrum of\n SMARCB1\/INI1<\/i>\n mutations in familial and sporadic rhabdoid tumors"],"prefix":"10.1002","volume":"56","author":[{"given":"Katherine W.","family":"Eaton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura S.","family":"Tooke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luanne M.","family":"Wainwright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander 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