- A dictionary of medical eponyms

Li-Fraumeni syndrome

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A rare familial syndrome characterized by the occurrence of sarcomas, breast cancer, brain tumours, leukaemia, and adrenocortical tumours in children and young adults.


  • F.P. Li, J.F. Freemeni, Jr.:
    Soft-tissue sarcomas, breast cancer and other neoplasm's: A familial syndrome?
    Annals of Internal Medicine, Philadelphia, October 1969, 71 (4): 747-752.
  • F.P. Li, J.F. Freemeni, Jr.:
    Rhabdomyosarcoma in children: Epidemiologic study and identification of a familial cancer syndrome.
    Journal of the National Cancer Institute, Cary, NC, 1969, 43: 1365-1373.
  • F.P. Li, J.F. Fraumeni, Jr., J.J. Mulvihill:
    A cancer family syndrome in twenty-four kindreds.
    Cancer Research, September 15, 1988, 48 (18): 5358-5362.
  • D. Malkin, F.P. Li, L.C. Strong, J.F. Fraumeni, Jr., C.E. Nelson, D.H. Kim, J. Kassel, M.A. Gryka, F.Z. Bischoff, M.A. Tainsky, S.H. Friend:
    Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
    Science, Washington, November 30, 1990, 250 (4985): 1233-1238.
  • F.P. Li, J.E. Garber, S.H. Friend, et al:
    Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals.
    Journal of the National Cancer Institute, August 5, 1992, 84 (15): 1156-1160 .

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