In 1969, a remarkable cancer predisposition syndrome was reported by Li and Fraumeni. Using a classical epidemiologic approach, they retrospectively evaluated 280 medical charts and 418 death certificates of children diagnosed with rhabdomyosarcoma in the United States from 1960 to 1964 [1,2]. Five ...
Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome. Am J Med Genet A. 2009; 149A(2):206-11. doi: 10. 1002/ajmg.a.32574 PMID: 19012332Prochazkova K, Pavlikova K, Minarik M, et al. Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome. Am J ...
Li–Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in the tumor protein p53 (TP53) gene [1] and high risk of a broad range of early-onset malignancies [2]. The majority (70–77%) of LFS-associated tumors are breast ca...