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Li-Fraumeniho syndróm

  1. Subject h.Li-Fraumeniho syndróm
    Subject h.Li-Fraumeni Syndrome
    Scope note in EnglishRare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
    See also reference (FX) in Slovak gény p53
    See also reference (FX) in English Genes, p53
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