title: Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome.
abstract: BACKGROUND
  Germ-line mutations of the TP53 gene are known to cause Li-Fraumeni syndrome, an autosomal, dominantly inherited, high-penetrance cancer-predisposition syndrome characterized by the occurrence of a variety of cancers, mainly soft tissue sarcomas, adrenocortical carcinoma, leukemia, breast cancer, and brain tumors.
  
  
  METHODS
  Mutation analysis was based on Denaturing high performance liquid chromatography (DHPLC) screening of exons 2-11 of the TP53 gene, sequencing, and cloning of DNA obtained from peripheral blood lymphocytes.
  
  
  RESULTS
  We report herein on Li Fraumeni syndrome in a family whose members are carriers of a novel TP53 gene mutation at exon 4. The mutation comprises an insertion/duplication of seven nucleotides affecting codon 110 and generating a new nucleotide sequence and a premature stop codon at position 150. With this mutation, the p53 protein that should be translated lacks the majority of the DNA binding domain.
  
  
  CONCLUSIONS
  To our knowledge, this specific alteration has not been reported previously, but we believe it is the cause of the Li-Fraumeni syndrome in this family.
authors.affiliation: Instituto Nacional de Cancerología (INCan), Mexico City, México. ltaja_chayeb@yahoo.com
authors.forename: Lucia
authors.initials: L
authors.lastname: Taja-Chayeb
authors.forename: Silvia
authors.initials: S
authors.lastname: Vidal-Millán
authors.forename: Olga
authors.initials: O
authors.lastname: Gutiérrez-Hernández
authors.forename: Catalina
authors.initials: C
authors.lastname: Trejo-Becerril
authors.forename: Enrique
authors.initials: E
authors.lastname: Pérez-Cárdenas
authors.forename: Alma
authors.initials: A
authors.lastname: Chávez-Blanco
authors.forename: Erick
authors.initials: E
authors.lastname: de la Cruz-Hernández
authors.forename: Alfonso
authors.initials: A
authors.lastname: Dueñas-González
mesh_terms: D000328:Adult; D000368:Aged; D017931:DNA Primers / Q000737:chemistry / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008297:Male; D008800:Mexico; D008875:Middle Aged; D010375:Pedigree; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D055815:Young Adult
chemical_list: D017931:DNA Primers; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53