Premium
Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer
Author(s) -
Yamada Hidetaka,
Shinmura Kazuya,
Yamamura Yasuhiro,
Kurachi Kiyotaka,
Nakamura Toshio,
Tsuneyoshi Toshihiro,
Yokota Naoki,
Maekawa Masato,
Sugimura Haruhiko
Publication year - 2009
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.24432
Subject(s) - li–fraumeni syndrome , germline , germline mutation , transactivation , cancer research , cancer , mutation , tumor suppressor gene , allele , colorectal cancer , medicine , biology , genetics , gene , oncology , carcinogenesis , gene expression
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