Article
Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer.
International journal of cancer - 15 Aug 2009
Yamada Hidetaka, Shinmura Kazuya, Yamamura Yasuhiro, Kurachi Kiyotaka, Nakamura Toshio, Tsuneyoshi Toshihiro, Yokota Naoki, Maekawa Masato, Sugimura Haruhiko
Abstract excerpt
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...
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