1. [New knowledge of Li-Fraumeni syndrome].
- Author
-
Funato M and Kondo N
- Subjects
- Genetic Counseling, Genetic Predisposition to Disease, Humans, Tumor Suppressor Protein p53 genetics, Li-Fraumeni Syndrome genetics, Li-Fraumeni Syndrome prevention & control, Li-Fraumeni Syndrome psychology, Li-Fraumeni Syndrome therapy
- Abstract
Li-Fraumeni syndrome(LFS)is the autosomal-dominant familial cancer predisposition syndrome. The criteria for it have already been defined, and most patients with this syndrome have been identified with germline mutations in the p53 tumor suppressor gene(TP53). More recently, the feasibility and potential clinical effect of a comprehensive surveillance of asymptomatic TP53 mutation carriers of this syndrome are being shown. However, the prevention and treatment recommendations for cancer, and the support system for LFS, are insufficient. In the future, patients with this syndrome require more developed medical treatment because they and their families have profound medical issues and psychosocial distress.
- Published
- 2013