{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,15]],"date-time":"2025-11-15T03:49:12Z","timestamp":1763178552951},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,3,19]],"date-time":"2009-03-19T00:00:00Z","timestamp":1237420800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2009,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Germline mutations in the <jats:italic>p53<\/jats:italic> tumor suppressor gene have been identified in patients with Li\u2010Fraumeni syndrome (LFS) and patients with Li\u2010Fraumeni\u2010like syndrome (LFL). However, to date, germline <jats:italic>p53<\/jats:italic> mutations in patients not fulfilling the criteria of LFS or LFL have been reported only very rarely. In our study, a novel germline c.584T&gt;C (p.Ile195Thr) mutation of the <jats:italic>p53<\/jats:italic> gene was found in a 21\u2013year\u2010old male with a glioblastoma and colon cancer. He had no family history of cancer within second\u2010degree relatives, and loss of the wild\u2010type <jats:italic>p53<\/jats:italic> allele and overexpression of p53 protein were observed in both tumors. Functional analyses revealed transactivation and growth suppressive function activities of the Thr195\u2010type p53 to be impaired. These results suggest germline <jats:italic>p53<\/jats:italic> mutations to possibly be responsible for a subset of young adult patient with multiple malignant tumors, even those not meeting the clinical criteria for LFS or LFL. \u00a9 2009 UICC<\/jats:p>","DOI":"10.1002\/ijc.24432","type":"journal-article","created":{"date-parts":[[2009,3,19]],"date-time":"2009-03-19T13:14:23Z","timestamp":1237468463000},"page":"973-976","source":"Crossref","is-referenced-by-count":17,"title":["Identification and characterization of a novel germline <i>p53<\/i> mutation in a patient with glioblastoma and colon cancer"],"prefix":"10.1002","volume":"125","author":[{"given":"Hidetaka","family":"Yamada","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuya","family":"Shinmura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhiro","family":"Yamamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyotaka","family":"Kurachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiro","family":"Tsuneyoshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoki","family":"Yokota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masato","family":"Maekawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haruhiko","family":"Sugimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,6,11]]},"reference":[{"key":"e_1_2_5_2_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_5_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1978757"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/348747a0"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.4.253"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.1021"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6600269"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgm175"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.lungcan.2007.12.013"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/jjco\/hyh092"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/path.2422"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20495"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1994.tb06543.x"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1054\/bjoc.2000.1167"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2004.02.017"},{"key":"e_1_2_5_16_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_5_17_2","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2005.10.014"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrc2349"}],"container-title":["International Journal of Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fijc.24432","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.24432","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T14:57:51Z","timestamp":1697468271000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ijc.24432"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6,11]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,8,15]]}},"alternative-id":["10.1002\/ijc.24432"],"URL":"https:\/\/doi.org\/10.1002\/ijc.24432","archive":["Portico"],"relation":{},"ISSN":["0020-7136","1097-0215"],"issn-type":[{"value":"0020-7136","type":"print"},{"value":"1097-0215","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6,11]]}}}