{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:33:03Z","timestamp":1792146783019,"version":"4.4.0"},"reference-count":27,"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":6160,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[1989,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The most common inherited syndrome in man predisposing to neoplasia is neurofibromatosis\u20101 (von Recklinghausen disease) (<jats:italic>NF1<\/jats:italic>). We investigated the hypothesis that affected individuals carry a single inactive allele at the <jats:italic>NF1<\/jats:italic> locus in the germline and that a tumor arises from a cell in a susceptible tissue in which the remaining normal allele has been lost or inactivated. DNA from tumor and nontumor tissue from 27 <jats:italic>NF1<\/jats:italic> patients was analyzed with three markers closely linked to the <jats:italic>NF1<\/jats:italic> locus and two additional markers from chromosome 17. No loss of heterozygosity was observed in neurofibromas, plexiform or not. For other tumor types analyzed, seven of 14 showed a loss. A loss of heterozygosity was observed in six of 11 of the malignant peripheral nerve tumors analyzed. Of the seven malignancies demonstrating a loss, five involved a neurofibrosarcoma. These findings suggest that the pathogenesis of neurofibrosarcoma in <jats:italic>NF1<\/jats:italic> involves a deficiency of the NF1 gene product. In any given patient, loss of heterozygosity was detected at some marker loci but not others. Thus the mutations demonstrated in these tumors comprise a set of overlapping mutations, which may facilitate more precise localization of the <jats:italic>NF1<\/jats:italic> gene.<\/jats:p>","DOI":"10.1002\/gcc.2870010107","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T22:38:35Z","timestamp":1172097515000},"page":"36-41","source":"Crossref","is-referenced-by-count":98,"title":["Molecular genetic analysis of tumors in von recklinghausen neurofibromatosis: Loss of heterozygosity for chromosome 17"],"prefix":"10.1002","volume":"1","author":[{"given":"Gary R.","family":"Skuse","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara A.","family":"Kosciolek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter T.","family":"Rowley","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":"10.1126\/science.3659909"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3107130"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/305779a0"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.70.12.3324"},{"key":"e_1_2_1_6_1","first-page":"142","volume-title":"A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis","author":"Crowe FW","year":"1956"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198403013100902"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(87)90034-6"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/318377a0"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/309176a0"},{"key":"e_1_2_1_11_1","first-page":"6","article-title":"Multipoint linkage analysis in neurofibromatosis type 1: An international collaboration","volume":"44","author":"Goldgar DE","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/223363a0"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.68.4.820"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/316330a0"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/309170a0"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.5.1571"},{"key":"e_1_2_1_17_1","first-page":"688","article-title":"A primary genetic map of chromosome 17","volume":"46","author":"Nakamura Y","year":"1987","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/309172a0"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/309174a0"},{"key":"e_1_2_1_20_1","first-page":"214","volume-title":"Neurofibromatosis: Phenotype, Natural History, and Pathogenesis","author":"Riccardi VM","year":"1986"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(77)90052-3"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/322644a0"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90534-4"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3105060"},{"key":"e_1_2_1_25_1","first-page":"128","article-title":"Tumor suppressor genes and inherited predisposition to malignancy","volume":"16","author":"Skuse GR","year":"1989","journal-title":"Semin Oncol"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198604173141603"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(75)80083-0"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7053574"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.2870010107","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.2870010107","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T05:57:12Z","timestamp":1697954232000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.2870010107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,9]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1989,9]]}},"alternative-id":["10.1002\/gcc.2870010107"],"URL":"https:\/\/doi.org\/10.1002\/gcc.2870010107","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,9]]}}}