Zusammenfassung
Das Li-Fraumeni-Syndrom (LFS) ist ein autosomal-dominant vererbtes,neoplastischesSyndrom und durch das Auftreten multipler Tumoren im Kindes- und frühen Erwachsenenalter charakterisiert. Bei den LFS-assoziierten Neoplasien handelt es sich in erster Linie um Brustkrebs, Weichteilsarkome und Knochensarkome sowie ein vermehrtes Auftreten von Hirntumoren, Leukämien und Karzinomen der Nebennierenrinde(Li u. Fraumeni 1969; Li et al. 1988). Die Mehrzahl der LFS-Patienten hat eine Keimbahnmutation im TP53-Tumorsuppressorgen (Malkin et al. 1990; Srivastava et al. 1990; Varley, et al. 1997). Bei einigen Familien, die die Kriterien des LFS oder von LFS-Varianten erfüllen, wurde eine heterozygote Keimbahnmutation des hCHK2-Gens nachgewiesen (Bell et al. 1999).
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Kleihues, P., Ohgaki, H., Hainaut, P. (2001). Li-Fraumeni-Syndrom. In: Ganten, D., Ruckpaul, K., Hahn, S.A., Schmiegel, W. (eds) Molekularmedizinische Grundlagen von hereditären Tumorerkrankungen. Molekulare Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56889-3_14
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