{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T07:00:50Z","timestamp":1790665250984,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,10,6]],"date-time":"2014-10-06T00:00:00Z","timestamp":1412553600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001545","name":"Children's Tumor Foundation","doi-asserted-by":"publisher","award":["2011-01-006"],"award-info":[{"award-number":["2011-01-006"]}],"id":[{"id":"10.13039\/100001545","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004435","name":"Association for International Cancer Research","doi-asserted-by":"publisher","award":["12-0275"],"award-info":[{"award-number":["12-0275"]}],"id":[{"id":"10.13039\/100004435","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["pathsocjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pathology"],"published-print":{"date-parts":[[2014,12]]},"abstract":"Abstract<\/jats:title>\n \n We recently reported\n \n SMARCE1<\/jats:styled-content>\n <\/jats:italic>\n mutations as a cause of spinal clear cell meningiomas. Here, we have identified five further cases with non\u2010\n NF2<\/jats:styled-content>\n spinal meningiomas and six with non\u2010\n NF2<\/jats:styled-content>\n cranial meningiomas. Three of the spinal cases and three of the cranial cases were clear cell tumours. We screened them for\n \n SMARCE1<\/jats:styled-content>\n <\/jats:italic>\n mutations and investigated copy number changes in all point mutation\u2010negative samples. We identified two novel mutations in individuals with spinal clear cell meningiomas and three mutations in individuals with cranial clear cell meningiomas. Copy number analysis identified a large deletion of the 5\u2032 end of\n \n SMARCE1<\/jats:styled-content>\n <\/jats:italic>\n in two unrelated probands with spinal clear cell meningiomas. Testing of affected and unaffected relatives of one of these individuals identified the same deletion in two affected female siblings and their unaffected father, providing further evidence of incomplete penetrance of meningioma disease in males. In addition, we found loss of\n SMARCE1<\/jats:styled-content>\n protein in three of 10 paraffin\u2010embedded cranial clear cell meningiomas. Together, these results demonstrate that loss of\n SMARCE1<\/jats:styled-content>\n is relevant to cranial as well as spinal meningiomas. Our study broadens the spectrum of mutations in the\n \n SMARCE1<\/jats:styled-content>\n <\/jats:italic>\n gene and expands the phenotype to include cranial clear cell meningiomas. Copyright \u00a9 2014 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd\n <\/jats:p>","DOI":"10.1002\/path.4427","type":"journal-article","created":{"date-parts":[[2014,8,21]],"date-time":"2014-08-21T06:51:08Z","timestamp":1408603868000},"page":"436-440","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":129,"title":["Germline\n \n SMARCE1<\/scp>\n <\/i>\n mutations predispose to both spinal and cranial clear cell meningiomas"],"prefix":"10.1002","volume":"234","author":[{"given":"Miriam J","family":"Smith","sequence":"first","affiliation":[{"name":"Manchester Centre for Genomic Medicine University of Manchester, Manchester Academic Health Sciences Centre (MAHSC) UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J","family":"Wallace","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine University of Manchester, Manchester Academic Health Sciences Centre (MAHSC) UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Bennett","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Hasselblatt","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University Hospital M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewelina","family":"Elert\u2010Dobkowska","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Klinische Chemie und Laboratoriumsdiagnostik Universit\u00e4tsklinikum Jena Germany"},{"name":"Institute of Psychiatry and Neurology Department of Genetics Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linton T","family":"Evans","sequence":"additional","affiliation":[{"name":"Section of Neurosurgery Dartmouth\u2010Hitchcock Medical Center Lebanon NH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William F","family":"Hickey","sequence":"additional","affiliation":[{"name":"Department of Pathology Dartmouth\u2010Hitchcock Medical Center Lebanon NH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack","family":"van Hoff","sequence":"additional","affiliation":[{"name":"Pediatric Hematology\/Oncology Dartmouth\u2013Hitchcock Medical Center Lebanon NH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Bauer","sequence":"additional","affiliation":[{"name":"Pediatric Hematology\/Oncology Dartmouth\u2013Hitchcock Medical Center Lebanon NH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Neurosurgery Seattle Children's Hospital WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert 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