Li-Fraumeni syndrome
Summary of Li-Fraumeni syndrome
Li–Fraumeni syndrome is a rare autosomal dominant hereditary disorder that predisposes one to cancer. This syndrome is also known as the sarcoma, breast, leukemia and adrenal gland syndrome and is linked to germline mutations of the p53 tumor suppressor gene. p53 encodes a transcription factor that normally regulates the cell cycle and prevents genomic mutations. The mutations can be inherited, or can arise from de novo mutations early in embryogenesis, or in one of the parent's germ cells.