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A novel splice site mutation of the <jats:italic>TP53<\/jats:italic>\u2010gene, likely to be associated with a nonfunctional protein, was found in the proband, his father and younger sister, but only the proband has so far developed malignancy. The clinical phenotype in the boy is suggestive of Li\u2013Fraumeni syndrome, but the family does not strictly conform to the canonical definition. Pediatr Blood Cancer 2008;50:701\u2013703. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.21074","type":"journal-article","created":{"date-parts":[[2006,10,25]],"date-time":"2006-10-25T17:48:12Z","timestamp":1161798492000},"page":"701-703","source":"Crossref","is-referenced-by-count":5,"title":["A novel splice mutation in the <i>TP53<\/i> gene associated with Leydig cell tumor and primitive neuroectodermal tumor"],"prefix":"10.1002","volume":"50","author":[{"given":"Chalotte W.","family":"Stecher","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsten","family":"Gr\u00f8nb\u00e6k","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henrik","family":"Hasle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,1,9]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90719-7"},{"key":"e_1_2_6_3_2","first-page":"6094","article-title":"Follow\u2010up study of twenty\u2010four families with Li\u2010Fraumeni syndrome","volume":"51","author":"Garber JE","year":"1991","journal-title":"Cancer Res"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/90.8.606"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199205143262002"},{"key":"e_1_2_6_6_2","first-page":"1","article-title":"Tumors associated with p53 germline mutations: A synopsis of 91 families","volume":"150","author":"Kleihues P","year":"1997","journal-title":"Am J Pathol"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202033"},{"key":"e_1_2_6_8_2","first-page":"1213","article-title":"Cancer in survivors of childhood soft tissue sarcoma and their relatives","volume":"79","author":"Strong LC","year":"1987","journal-title":"J Natl Cancer Inst"},{"key":"e_1_2_6_9_2","first-page":"5358","article-title":"A cancer family syndrome in twenty\u2010four kindreds","volume":"48","author":"Li FP","year":"1988","journal-title":"Cancer Res"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:4<348::AID-HUMU8>3.0.CO;2-1"},{"key":"e_1_2_6_11_2","first-page":"1203","article-title":"A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm","volume":"8","author":"Felix CA","year":"1993","journal-title":"Oncogene"},{"key":"e_1_2_6_12_2","first-page":"97","article-title":"Splice\u2010site mutation of the p53 gene in a family with hereditary breast\u2010ovarian cancer","volume":"9","author":"Jolly KW","year":"1994","journal-title":"Oncogene"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1201878"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1203758"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-9084(01)01361-X"},{"key":"e_1_2_6_16_2","first-page":"608","article-title":"Germ\u2010line p53 mutations in 15 families with Li\u2010Fraumeni syndrome","volume":"56","author":"Frebourg T","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_17_2","first-page":"1298","article-title":"Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li\u2010Fraumeni families","volume":"54","author":"Birch JM","year":"1994","journal-title":"Cancer Res"},{"key":"e_1_2_6_18_2","first-page":"6643","article-title":"Li\u2010Fraumeni and related syndromes: Correlation between tumor type, family structure, and TP53 genotype","volume":"63","author":"Olivier M","year":"2003","journal-title":"Cancer Res"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.21074","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.21074","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T19:59:51Z","timestamp":1696881591000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.21074"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,9]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1002\/pbc.21074"],"URL":"https:\/\/doi.org\/10.1002\/pbc.21074","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,9]]}}}