Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer

✍ Scribed by Hidetaka Yamada; Kazuya Shinmura; Yasuhiro Yamamura; Kiyotaka Kurachi; Toshio Nakamura; Toshihiro Tsuneyoshi; Naoki Yokota; Masato Maekawa; Haruhiko Sugimura

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: French
• Weight: 507 KB
• Volume: 125
• Category: Article
• ISSN: 0020-7136
• DOI: 10.1002/ijc.24432

✦ Synopsis

Abstract

Germline mutations in the p53 tumor suppressor gene have been identified in patients with Li‐Fraumeni syndrome (LFS) and patients with Li‐Fraumeni‐like syndrome (LFL). However, to date, germline p53 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>C (p.Ile195Thr) mutation of the p53 gene was found in a 21–year‐old male with a glioblastoma and colon cancer. He had no family history of cancer within second‐degree relatives, and loss of the wild‐type p53 allele and overexpression of p53 protein were observed in both tumors. Functional analyses revealed transactivation and growth suppressive function activities of the Thr195‐type p53 to be impaired. These results suggest germline p53 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. © 2009 UICC