{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T06:41:56Z","timestamp":1792651316764,"version":"4.5.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,7,14]],"date-time":"2006-07-14T00:00:00Z","timestamp":1152835200000},"content-version":"vor","delay-in-days":4365,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[1994,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis type I (NFI) is a common autosomal dominant disorder with an increased risk for developing benign and malignant tumors. The <jats:italic>NFI<\/jats:italic> gene has been cloned and maps to 17qII.2, and the gene product acts as a tumor suppressor gene. Here we analyzed the role of mutations in <jats:italic>TP53<\/jats:italic> in four malignant NFI tumors. Mutations were found in 3 out of 4 tumors. One of these mutations is a common missense mutation in codon 278 in one of the previously identified hot spots for mutations. The two other are hitherto unreported mutations, including a splice mutation of exon 3 and a nonsense mutation in exon 4. In addition, these four tumors also showed loss of heterozygosity (LOH) for markers on chromosome 17 in the region of <jats:italic>TP53.<\/jats:italic> Malignant NFI tumors are initiated by a somatic inactivation of the second <jats:italic>NFI<\/jats:italic> allele. Tumor progression, however, occurs by accumulation of additional genetic abnormalities, such as homozygous inactivation of <jats:italic>TP53<\/jats:italic>, as demonstrated in this paper. <jats:italic>Genes Chromosom Cancer<\/jats:italic> 10:250\u2013255 (1994). \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.2870100405","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T23:48:44Z","timestamp":1172101724000},"page":"250-255","source":"Crossref","is-referenced-by-count":179,"title":["<i>TP53<\/i> mutations are frequent in malignant NFI tumors"],"prefix":"10.1002","volume":"10","author":[{"given":"Eric","family":"Legius","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herman","family":"Dierick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rina","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan K.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Marynen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Jacques","family":"Cassiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Glover","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","first-page":"7717","article-title":"P53 gene mutations occur in combination with 17p allelic deletions as late events in colorectal tumorigenesis","volume":"50","author":"Baker SJ","year":"1990","journal-title":"Cancer Res"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90151-4"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/356713a0"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870040102"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90253-B"},{"key":"e_1_2_1_7_1","first-page":"176","volume-title":"A Clinical, Pathological and Genetic Study of Multiple Neurofibromatosis","author":"Crowe FW","year":"1956"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90407-4"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/21.18.4427"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870030111"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1905840"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.20.120186.001311"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0293-122"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90017-9"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90150-D"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.14.5435"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)92943-A"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/342705a0"},{"key":"e_1_2_1_19_1","volume-title":"Neurofibromatosis: Phenotype, Natural History and Pathogenesis","author":"Riccardi VM","year":"1988"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/355846a0"},{"key":"e_1_2_1_21_1","first-page":"575","article-title":"Neurofibromatosis (1988). National Institute of Health, Consensus Development Conference Statement","volume":"45","author":"Stumpf DA","year":"1987","journal-title":"Arch Neurol"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90252-A"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198809013190901"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2134734"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90024-9"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.13.3764"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.2870100405","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.2870100405","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T01:09:05Z","timestamp":1698196145000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.2870100405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,8]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1994,8]]}},"alternative-id":["10.1002\/gcc.2870100405"],"URL":"https:\/\/doi.org\/10.1002\/gcc.2870100405","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,8]]}}}