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Li–Fraumeni syndrome is a rare cancer predisposition hereditary disorder characterized as autosomal dominant. It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni, Jr., who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients. This syndrome is also known as the Sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome. The syndrome is linked to germline mutations of the TP53 tumor suppressor gene, which encodes a transcription factor (p53) 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. ==Characteristics== Li–Fraumeni syndrome is characterized by: *a diverse amount of cancers; *early onset of cancer; and, *development of multiple cancers throughout one's life. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Li–Fraumeni syndrome」の詳細全文を読む スポンサード リンク
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