{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:29:31Z","timestamp":1790036971869,"version":"4.0.1"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,5,31]],"date-time":"2012-05-31T00:00:00Z","timestamp":1338422400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006313","name":"Swedish Childhood Cancer Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006313","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Swedish Cancer Society"},{"DOI":"10.13039\/501100011077","name":"Sk\u00e5ne University Hospital","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100011077","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>Whether childhood adrenocortical tumors (ACTs), choroid plexus tumors (CPTs), and rhabdomyosarcoma (RMS) are early manifestation of Li\u2013Fraumeni syndrome (LFS) is uncertain. In this study, we evaluated the frequency of germline <jats:italic>TP53<\/jats:italic> mutations and family history in a population\u2010based series of patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods<\/jats:title><jats:p>We identified children (\u226418 years) diagnosed between 1958 and 2008 with ACT (n\u2009=\u20093) or CPT (n\u2009=\u20097), or children \u22645 years with RMS (n\u2009=\u200929). Registry\u2010based pedigree expansion was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No patients had a family history of classic LFS but 17 fulfilled Chompret or Eeles criteria. <jats:italic>TP53<\/jats:italic> mutations were found in 1\/3 ACT patients and 1\/18 RMS patients; both were novel mutations. Of five tested CPT patients none had a detectable mutation. No excess of LFS associated tumors was observed, except for breast cancer in families of CPT patients. An overall increased cancer incidence was observed in families of patients with CPT [standardized incidence ratio (SIR)\u2009=\u20092.0; 95% CI: 1.1\u20133.5] due to excess of breast and female kidney cancer and in families of patients with RMS (SIR\u2009=\u20091.2; 95% CI: 0.9\u20131.7), due to excess of early\u2010onset melanoma and male stomach cancer.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Relatives of patients with childhood ACTs, CPTs, and RMSs showed no increased risk of LFS associated tumors. However, <jats:italic>TP53<\/jats:italic> mutations could be found in these children irrespective of family history. Absence of LFS associated tumors may suggest the presence of other cancer syndromes. Improved knowledge about relatives' cancer risks could be helpful in counseling family members of children with cancer. Pediatr Blood Cancer 2012; 59: 846\u2013853. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.24223","type":"journal-article","created":{"date-parts":[[2012,5,31]],"date-time":"2012-05-31T18:33:01Z","timestamp":1338489181000},"page":"846-853","source":"Crossref","is-referenced-by-count":24,"title":["Prevalence of germline <i>TP53<\/i> mutations and history of Li\u2013Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: A population\u2010based survey"],"prefix":"10.1002","volume":"59","author":[{"given":"Susanne","family":"Magnusson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Gisselsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Wiebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulf","family":"Kristoffersson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c5ke","family":"Borg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e5kan","family":"Olsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,5,31]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-71-4-747"},{"key":"e_1_2_6_3_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"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2008.16.6959"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204621"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2005.10.014"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.073429"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1978757"},{"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":"10.1136\/jmg.38.1.43"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.22.7967"},{"key":"e_1_2_6_12_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_13_2","first-page":"101","article-title":"Germline mutations in the TP53 gene","volume":"25","author":"Eeles RA","year":"1995","journal-title":"Cancer surveys"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/86.22.1707"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/302575"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.26.8169"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117834"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1086\/374567"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1097\/CCO.0b013e328333bf00"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1080\/02841860802247664"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20495"},{"key":"e_1_2_6_22_2","first-page":"83","article-title":"Germ\u2010line p53 mutations predispose to a wide spectrum of early\u2010onset cancers","volume":"10","author":"Nichols KE","year":"2001","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"e_1_2_6_23_2","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1200\/JCO.1990.8.4.583","article-title":"Identification of factors associated with high breast cancer risk in the mothers of children with soft tissue sarcoma","volume":"8","author":"Birch JM","year":"1990","journal-title":"J Clin Oncol"},{"key":"e_1_2_6_24_2","doi-asserted-by":"crossref","unstructured":"PangD EvansG BirchJ.Elevated breast cancer risk among mothers of a population\u2010based series of 2668 children with cancer. ecancer 2008;2:57.","DOI":"10.3332\/eCMS.2008.57"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058958"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/90.8.606"},{"key":"e_1_2_6_27_2","volume-title":"GeneReviews","author":"Schneider K"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(11)70119-X"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24223","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24223","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.24223","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T10:29:20Z","timestamp":1696847360000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.24223"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,31]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["10.1002\/pbc.24223"],"URL":"https:\/\/doi.org\/10.1002\/pbc.24223","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,31]]}}}