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last update : 04-01-2012
Symbol LFS1
Location 17p13.1
Name Li-Fraumeni syndrome 1
Other name(s)
  • Sarcoma family syndrome of Li and Fraumeni
  • SBLA syndrome
  • Corresponding gene TP53
    Other symbol(s) BCCR
    Main clinical features
  • familial cancer syndrome predisposing to osteosarcomas, soft-tissue sarcomas, premenopausal breast cancer, brain tumors, adrenal cortical tumors, and acute leukemias
  • the spectrum of tumors is much broader than these original six component tumors
  • cancer diagnosed before 33 years of age (Bougeard 2008)
  • Genetic determination autosomal dominant
    Prevalence fewer than 400 families reported worldwide
    Related entries TSG17A
    Function/system disorder multisystem/generalized
    Type disease
    Gene product
    Name cellular tumor antigen p53 protein (TP53) implicated in cell cycle control after DNA damage and in apoptosis
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function The majority of reported TP53 mutations are missense mutations, mostly in the core DNA-binding region of the gene.
    abnormal splicing     Mutations affecting splice site junctions have been reported.
  • mutation identified in about 50 percent of affected families, more than 250 distinct germline TP53 mutations have been described
  • Genotype/Phenotype correlations
  • while frame shift mutations have consistently been associated with high cancer risks, certain missense TP53 mutations may confer lower cancer risks.
  • missense mutations associated with a 9 year earlier tumour onset ( confirm that missense mutations not only inactivate TP53 but also have an additional oncogenic effect) (Bougeard 2008)