{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:51:15Z","timestamp":1786978275644,"version":"build-2736575974"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,12,19]],"date-time":"2012-12-19T00:00:00Z","timestamp":1355875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004917","name":"Cancer Prevention and Research Institute of Texas","doi-asserted-by":"crossref","award":["RP10189"],"award-info":[{"award-number":["RP10189"]}],"id":[{"id":"10.13039\/100004917","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"crossref","award":["R01 CA138836"],"award-info":[{"award-number":["R01 CA138836"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"crossref","award":["T32 GM007526"],"award-info":[{"award-number":["T32 GM007526"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Although acute lymphocytic leukemia (ALL) is the most common childhood cancer, genetic predisposition to ALL remains poorly understood. Whole\u2010exome sequencing was performed in an extended kindred in which five individuals had been diagnosed with leukemia. Analysis revealed a nonsense variant of\n                    <jats:italic>TP53<\/jats:italic>\n                    which has been previously reported in families with sarcomas and other typical Li Fraumeni syndrome\u2010associated cancers but never in a familial leukemia kindred. This unexpected finding enabled identification of an appropriate sibling bone marrow donor and illustrates that exome sequencing will reveal atypical clinical presentations of even well\u2010studied genes. Pediatr Blood Cancer 2013; 60: E1\u2013E3. \u00a9 2012 Wiley Periodicals, Inc.\n                  <\/jats:p>","DOI":"10.1002\/pbc.24417","type":"journal-article","created":{"date-parts":[[2012,12,19]],"date-time":"2012-12-19T08:46:40Z","timestamp":1355906800000},"source":"Crossref","is-referenced-by-count":47,"title":["Identification of\n                    <i>TP53<\/i>\n                    as an acute lymphocytic leukemia susceptibility gene through exome sequencing"],"prefix":"10.1002","volume":"60","author":[{"given":"Bradford C.","family":"Powell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lichun","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"Muzny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa R.","family":"Trevi\u00f1o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ZoAnn E.","family":"Dreyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise C.","family":"Strong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Wheeler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Gibbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon E.","family":"Plon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,12,19]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-07-038299"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115907"},{"key":"e_1_2_5_4_2","first-page":"687","article-title":"Absence of germline p53 mutations in familial lymphoma","volume":"12","author":"Weintraub M","year":"1996","journal-title":"Oncogene"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199911)62:3<144::AID-AJH3>3.0.CO;2-Q"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm987"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.080531.108"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn721"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-13-8"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(11)70119-X"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2007.05.099"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0802970105"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2008.16.6959"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.22.7967"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-0957-1"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20495"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201715"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1582-4934.2008.00634.x"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24417","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.24417","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.24417","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:40:02Z","timestamp":1697640002000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.24417"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12,19]]},"references-count":19,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1002\/pbc.24417"],"URL":"https:\/\/doi.org\/10.1002\/pbc.24417","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12,19]]}}}