ABSTRACT
This chapter presents a state of the art summary of Li-Fraumeni syndrome (LFS) relation to its biology, epidemiology, disease mechanisms, clinical signs, diagnosis, treatment and prognosis. First described by Frederick Li and Joseph Fraumeni in 1969 in a group of families with an unusually high incidence of cancers, LFS is a rare autosomally dominant syndrome associated with germ line TP53 mutations and early development of soft tissue sarcoma, osteosarcoma, premenopausal breast cancer, and brain tumor. There exists a similar condition called Li–Fraumeni-like syndrome, which also displays an increased risk for developing multiple cancers in childhood but has a different pattern of specific cancers in comparison with classic LFS. LFS is a rare, autosomal, dominant, hereditary cancer syndrome that affects about one in 5,000 individuals in Europe and North America, with about 500 LFS families recorded in the database of the International Association for Research on Cancer.
