{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T06:56:30Z","timestamp":1791960990387,"version":"4.3.4"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,7,14]],"date-time":"2006-07-14T00:00:00Z","timestamp":1152835200000},"content-version":"vor","delay-in-days":4334,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[1994,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Schwannomas are benign tumors of cranial, spinal, and other nerve sheaths that develop sporadically or are inherited as part of neurofibromatosis type 2 (NF2). The <jats:italic>NF2<\/jats:italic> gene (<jats:italic>SCH<\/jats:italic>) on chromosome 22 has recently been identified and shown to be inactivated by mutation and allele loss in some schwannomas. However, only limited regions in the <jats:italic>SCH<\/jats:italic> coding region were examined for mutations. We have extended these studies by screening virtually all coding sequences of the <jats:italic>SCH<\/jats:italic> gene (95% coverage) and adjacent splice site sequences for the presence of mutations in 48 schwannomas. All tumors (34 vestibular schwannomas and 14 schwannomas of other locations) were additionally characterized for allele loss on chromosome 22. By PCR\u2010DGGE screening of the 16 known exons of the <jats:italic>SCH<\/jats:italic> gene, 22 mutations were found. Most of these give rise to a premature stop codon and are expected to result in the synthesis of a truncated gene product (schwannomin). Although there was no apparent hotspot for mutations, 16 of the 22 mutations occurred in the first eight exons or adjacent splice site sequences of the <jats:italic>SCH<\/jats:italic> gene. In several vestibular as well as other schwannomas loss of one <jats:italic>SCH<\/jats:italic> allele and mutational inactivation of the second allele were identified in the same tumor. Our data indicate that the <jats:italic>SCH<\/jats:italic> gene is implicated in the development of schwannomas of all locations in the nervous system.<\/jats:p>","DOI":"10.1002\/gcc.2870110103","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T23:48:37Z","timestamp":1172101717000},"page":"7-14","source":"Crossref","is-referenced-by-count":42,"title":["Analysis of mutations in the <i>SCH<\/i> gene in schwannomas"],"prefix":"10.1002","volume":"11","author":[{"given":"Emilia K.","family":"Bijlsma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Merel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Andries","family":"Bosch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andries","family":"Westerveld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Delattre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theo J. M.","family":"Hulsebos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870050305"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870080208"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(90)90066-J"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90079-T"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.12.841"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90464-P"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410290211"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90513-E"},{"key":"e_1_2_1_10_1","first-page":"2213","article-title":"Efficient screening of p53 mutations by denaturing gradient gel electrophoresis in colorectal tumors","volume":"8","author":"Hamelin R","year":"1993","journal-title":"Oncogene"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133080"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","unstructured":"MerelP Hoang\u2010XuanK SansonM BijlsmaE Laurent\u2010PingP PulstS RouleauG LenoirG SterkersJM PhilipponJ HulsebosT AuriasA DelattreO ThomasG(1994) Screening for germline mutations in the coding sequence of the NF2 gene.Genes Chromosom Cancer(in press).","DOI":"10.1002\/gcc.2870120206"},{"key":"e_1_2_1_13_1","first-page":"391","article-title":"An efficient salt\u2010chloroform extraction of DNA from blood and tissues","volume":"5","author":"M\u00fcllenbach R","year":"1989","journal-title":"Trends Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"e_1_2_1_15_1","first-page":"273","article-title":"Germ\u2010line mutations in the first 14 exons of the adenom\u2010atous polyposis coli (APC) gene","volume":"52","author":"Olschwang S","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(93)90140-H"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.24.120190.001201"},{"key":"e_1_2_1_18_1","first-page":"323","article-title":"Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22","volume":"46","author":"Rouleau GA","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/363515a0"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/322644a0"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3105060"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.1.232"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.10.12.6299"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90406-G"},{"key":"e_1_2_1_25_1","first-page":"478","article-title":"Analysis of chromosome 22 deletions in neurofibromatosis type 2\u2010related tumors","volume":"51","author":"Wolff RK","year":"1992","journal-title":"Am J Hum Genet"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.2870110103","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.2870110103","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T03:15:58Z","timestamp":1698117358000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.2870110103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,9]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,9]]}},"alternative-id":["10.1002\/gcc.2870110103"],"URL":"https:\/\/doi.org\/10.1002\/gcc.2870110103","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,9]]}}}