Li-Fraumeni's syndrome is a rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni Jr., the American doctors who first recognized and described the syndrome. Li-Fraumeni's syndrome increases the sensitivity to cancer. The syndrome is linked to the mutations of the p53 tumor suppressor gene, which normally helps to control cell growth (there is only one functional copy of the p53 gene). Mutations can be inherited or de novo may occur at the beginning of the embryogenesis or in any of the parental sex cells.
People with LFS have an increased risk of a wide range of cancers, especially an increased risk of breast cancer, brain tumors, acute leukemia, wardensarcoma, botsarcoma and adrenal cancer. Externe link
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