Li–Fraumeni syndrome
Autosomal dominant cancer syndrome / From Wikipedia, the free encyclopedia
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Li–Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder[1] that predisposes carriers to cancer development. 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.[2] This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome.
Li–Fraumeni syndrome | |
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Other names | Sarcoma family syndrome of Li and Fraumeni |
Li–Fraumeni syndrome is inherited via an autosomal dominant manner | |
Specialty | Oncology, medical genetics, neurology |
The syndrome is linked to germline mutations of the p53 tumor suppressor gene,[3] 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 mutations early in embryogenesis, or in one of the parent's germ cells.