title: 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.
authors.forename: G
authors.initials: G
authors.lastname: Bougeard
authors.forename: J M
authors.initials: JM
authors.lastname: Limacher
authors.forename: C
authors.initials: C
authors.lastname: Martin
authors.forename: F
authors.initials: F
authors.lastname: Charbonnier
authors.forename: A
authors.initials: A
authors.lastname: Killian
authors.forename: O
authors.initials: O
authors.lastname: Delattre
authors.forename: M
authors.initials: M
authors.lastname: Longy
authors.forename: P
authors.initials: P
authors.lastname: Jonveaux
authors.forename: J P
authors.initials: JP
authors.lastname: Fricker
authors.forename: D
authors.initials: D
authors.lastname: Stoppa-Lyonnet
authors.forename: J M
authors.initials: JM
authors.lastname: Flaman
authors.forename: T
authors.initials: T
authors.lastname: Frébourg
mesh_terms: D064447:Checkpoint Kinase 2; D004252:DNA Mutational Analysis / Q000379:methods; D004268:DNA-Binding Proteins; D005192:Family Health; D005260:Female; D005602:France; D016147:Genes, Tumor Suppressor; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins; D009154:Mutation; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: C081876:CKAP4 protein, human; D004268:DNA-Binding Proteins; D008565:Membrane Proteins; D010750:Phosphoproteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D016159:Tumor Suppressor Protein p53; D025521:Tumor Suppressor Proteins; D011494:Protein Kinases; D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases