The Li-Fraumeni syndrome and the role of TP53 mutations in predisposition to cancer

摘要: The familial cancer syndrome which is now known as the Li-Fraumeni (LFS) was first described by Dr F.P.Li and J.F. Fraumeni in 1969. As part of a survey nearly 650 children with rhabdomyosarcoma United States, Li identified three pairs affected siblings when less than one would have been expected chance. In addition pair cousins identified. obtained information interview families from medical records about occurrence these four families, found an unusually high incidence premenopausal breast cancer, sarcomas occurring at early age, other early-onset cancers close relatives index cases. It notable that mothers had developed under age 30. proposed observations were due to inherited predisposition observed [1]. more detailed report, second childhood soft tissue sarcoma identified, finding adrenocortical carcinoma brain tumours first-degree suggested may also be components [2].