Germline TP53 mutations and Li-Fraumeni syndrome.

  title={Germline TP53 mutations and Li-Fraumeni syndrome.},
  author={Jenny M. Varley},
  journal={Human mutation},
  volume={21 3},
There are now reports of nearly 250 independent germline TP53 (p53) mutations in over 100 publications. Such mutations are typically associated with Li-Fraumeni or Li-Fraumeni-like syndrome, although many have been identified in cohorts of patients with tumors considered to be typical of LFS. In general, the spectrum of mutations that has been detected in the germline reflects that found in tumors, although there are some notable exceptions in certain tumor types. Detailed knowledge of the… CONTINUE READING

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