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Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer.
- Source :
- International Journal of Cancer; Aug2009, Vol. 125 Issue 4, p973-976, 4p
- Publication Year :
- 2009
-
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 [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00207136
- Volume :
- 125
- Issue :
- 4
- Database :
- Complementary Index
- Journal :
- International Journal of Cancer
- Publication Type :
- Academic Journal
- Accession number :
- 62211288
- Full Text :
- https://doi.org/10.1002/ijc.24432