{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T12:40:27Z","timestamp":1762864827480},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,3,12]],"date-time":"2002-03-12T00:00:00Z","timestamp":1015891200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med. Pediatr. Oncol."],"published-print":{"date-parts":[[2002,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Whereas in sporadic human malignancies mutations of the <jats:italic>TP53<\/jats:italic> tumor\u2010suppressor gene occur in cancers of almost every organ and histologic subtype, patients with an inborn <jats:italic>TP53<\/jats:italic> defect are at high risk to develop, in particular, soft tissue and bone sarcomas, brain tumors, leukaemias, adrenocortical tumors, and breast cancer. To demonstrate the usefulness of microarray technology applied to <jats:italic>TP53<\/jats:italic> sequencing in pediatric tumors, we investigated young patients suffering from tumors typical of the Li\u2010Fraumeni context who were, therefore, candidates for harboring inborn defects in tumor\u2010suppressor genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedure<\/jats:title><jats:p>Six individuals were studied, including typical Li\u2010Fraumeni patients as well as patients without any family history of cancer. DNA samples were independently analyzed for <jats:italic>TP53<\/jats:italic> mutations by GeneChip<jats:sup>\u00ae<\/jats:sup> and standard automated laser fluorescence (ALF<jats:sup>\u00ae<\/jats:sup>) sequencing technology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The tumor and corresponding constitutional DNA samples clearly showed identical mutations which were confirmed by ALF sequencing. All coding exons (exons 2\u201311) of <jats:italic>TP53<\/jats:italic> were analyzed simultaneously. The entire sequencing procedure and data analysis was carried out within 24 hr.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The GeneChip<jats:sup>\u00ae<\/jats:sup> <jats:italic>TP53<\/jats:italic>\u2010sequencing assay may be feasible for routine molecular genetic diagnostics in determining the <jats:italic>TP53<\/jats:italic> status of childhood\u2010tumor patients and in enabling a disease management based on the genetic background of the individual. Med. Pediatr. Oncol. 2002;38:247\u2013253. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mpo.10044","type":"journal-article","created":{"date-parts":[[2004,10,25]],"date-time":"2004-10-25T15:36:22Z","timestamp":1098718582000},"page":"247-253","source":"Crossref","is-referenced-by-count":5,"title":["Analysis of <i>TP53<\/i> germline mutations in pediatric tumor patients using DNA microarray\u2010based sequencing technology"],"prefix":"10.1002","volume":"38","author":[{"given":"Karl\u2010Ludwig","family":"Schaefer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Wai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Poremba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raihanatou","family":"Diallo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Werner","family":"Boecker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Dockhorn\u2010Dworniczak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,3,12]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117834"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1978757"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-71-4-747"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202298"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0959-8049(96)00104-9"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.13.7382"},{"key":"e_1_2_1_8_2","first-page":"2716","article-title":"Comparison of TP53 mutations identified by oligonucleotide microarray and conventional DNA sequence analysis","volume":"60","author":"Wen WH","year":"2000","journal-title":"Cancer Res"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1093\/clinchem\/46.10.1555","article-title":"Evaluation of the performance of a p53 sequencing microarray chip using 140 previously sequenced bladder tumor samples","volume":"46","author":"Wikman FP","year":"2000","journal-title":"Clin Chem"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.1.214"},{"key":"e_1_2_1_11_2","first-page":"1062","article-title":"Elevated frequency and functional activity of a specific germ\u2010line p53 intron mutation in familial breast cancer","volume":"60","author":"Lehman TA","year":"2000","journal-title":"Cancer Res"},{"key":"e_1_2_1_12_2","first-page":"3245","article-title":"Germ\u2010line mutations of TP53 in Li\u2010Fraumeni families: an extended study of 39 families","volume":"57","author":"Varley JM","year":"1997","journal-title":"Cancer Res"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.286.5449.2528"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/86.22.1707"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/302575"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/mpo.2950250603"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/90.8.606"}],"container-title":["Medical and Pediatric Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmpo.10044","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mpo.10044","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T11:47:17Z","timestamp":1700308037000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mpo.10044"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,3,12]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,4]]}},"alternative-id":["10.1002\/mpo.10044"],"URL":"https:\/\/doi.org\/10.1002\/mpo.10044","archive":["Portico"],"relation":{},"ISSN":["0098-1532","1096-911X"],"issn-type":[{"value":"0098-1532","type":"print"},{"value":"1096-911X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,3,12]]}}}