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The Li-Fraumeni syndrome and the role of TP53 mutations in predisposition to cancer

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Genetic Predisposition to Cancer

Abstract

The familial cancer syndrome which is now known as the Li-Fraumeni syndrome (LFS) was first described by Dr F.P.Li and Dr J.F. Fraumeni in 1969. As part of a survey of nearly 650 children with rhabdomyosarcoma in the United States, Li and Fraumeni identified three pairs of affected siblings when less than one would have been expected by chance. In addition one pair of affected cousins was identified. Li and Fraumeni obtained information by interview with the families and from medical records about the occurrence of cancer in these four families, and found an unusually high incidence of premenopausal breast cancer, sarcomas occurring at an early age, and other unusually early-onset cancers in the close relatives of the index cases. It is notable that three of the mothers of the index children had developed breast cancer under the age of 30. Li and Fraumeni proposed that these observations were due to inherited predisposition to the observed cancers [1]. In a more detailed report, a second pair of cousins with childhood soft tissue sarcoma were identified, and the finding of adrenocortical carcinoma and brain tumours in first-degree relatives of children with soft tissue sarcoma suggested that these cancers may also be components of the syndrome [2].

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Authors
  1. Jillian M. Birch
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Editor information

Editors and Affiliations

  1. Cancer Genetics and Clinical Oncology, Institute of Cancer Research and Royal Marsden Hospital, Surrey, UK

    Rosalind A. Eeles (Senior Lecturer and Honorary Consultant) (Senior Lecturer and Honorary Consultant)

  2. CRC Human Cancer Genetics Research Group, University of Cambridge, UK

    Bruce A. J. Ponder (Director) (Director)

  3. CRC Genetic Epidemiology Unit, University of Cambridge, UK

    Douglas F. Easton (Director) (Director)

  4. Academic Unit of Radiotherapy and Oncology, Institute of Cancer Research and Royal Marsden Hospital, Surrey, UK

    Alan Horwich (Director of Clinical Research) (Director of Clinical Research)

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© 1996 Springer Science+Business Media Dordrecht

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Birch, J.M. (1996). The Li-Fraumeni syndrome and the role of TP53 mutations in predisposition to cancer. In: Eeles, R.A., Ponder, B.A.J., Easton, D.F., Horwich, A. (eds) Genetic Predisposition to Cancer. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-4501-3_8

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  • DOI: https://doi.org/10.1007/978-1-4899-4501-3_8

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-0-412-56580-9

  • Online ISBN: 978-1-4899-4501-3

  • eBook Packages: Springer Book Archive

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