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Li-Fraumeni syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Li-Fraumeni syndrome is a heritable tendency to develop cancer which has been linked with mutations in the p53 tumour-suppressor gene (chromosome 17p 13.1 - this encodes nuclear phosphoprotein, a transcription factor which enables passage through the cell cycle).

In this syndrome only one allele is affected. Therefore development is normal until a spontaneous mutation affects the other allele.

The cells that contain the p53 mutation do not pause in the G1 phase (in this phase the process of DNA repair occurs and faulty DNA is purged). Instead they procede to S1 (DNA replication) without entering the G1.

The characteristic tumours associated with the Li-Fraumeni syndrome are:

  • soft tissue sarcomata
  • adrenal cortical tumours
  • brain tumours
  • leukaemia
  • early onset breast cancer
  • radiation-induced cancers

Refs: 1) Hartley, AL. et al. (1993). Patterns of cancer in the families of children with soft tissue sarcoma. Cancer, 72, 923-30. 2) Li, FP., Fraumeni, JF. et al. (1988). A cancer family syndrome in 24 kindreds. Cancer Res. 48, 5358-62.

Refs: 1) Hartley, AL. et al. (1993). Patterns of cancer in the families of children with soft tissue sarcoma. Cancer, 72, 923-30. 2) Li, FP., Fraumeni, JF. et al. (1988). A cancer family syndrome in 24 kindreds. Cancer Res. 48, 5358-62.


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