Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome

J Med Genet. 2001 Apr;38(4):253-7. doi: 10.1136/jmg.38.4.253.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Checkpoint Kinase 2
  • DNA Mutational Analysis / methods
  • DNA-Binding Proteins
  • Family Health
  • Female
  • France
  • Genes, Tumor Suppressor
  • Germ-Line Mutation*
  • Humans
  • Li-Fraumeni Syndrome / genetics*
  • Male
  • Membrane Proteins*
  • Mutation
  • Pedigree
  • Phosphoproteins / genetics*
  • Protein Kinases / genetics*
  • Protein Serine-Threonine Kinases*
  • Trans-Activators / genetics*
  • Transcription Factors
  • Tumor Suppressor Protein p53 / genetics*
  • Tumor Suppressor Proteins

Substances

  • CKAP4 protein, human
  • DNA-Binding Proteins
  • Membrane Proteins
  • Phosphoproteins
  • TP63 protein, human
  • Trans-Activators
  • Transcription Factors
  • Tumor Suppressor Protein p53
  • Tumor Suppressor Proteins
  • Protein Kinases
  • Checkpoint Kinase 2
  • CHEK2 protein, human
  • Protein Serine-Threonine Kinases