title: A prospective biological study in relation to a family with Li-Fraumeni syndrome.
abstract: BACKGROUND
  The Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary disorder associated with different tumor types in childhood and young adults. Approximately 70% of LFS cases contain germline mutations in the TP53 gene. We report a case of a family suspected of LFS.
  
  
  METHODS
  The proband and four members of the family affected were diagnosed with cancer at an early age and they all died except the proband. Exons 5-9 from TP53 gene were analysed by direct amplification and sequencing in 7 family members.
  
  
  RESULTS
  The analysis revealed a germline nonsense mutation in exon 8 at codon 306 of the codified region of the TP53 gene, causing a change of CGA to TGA (Arg→Stop) in the proband, her mother, her cousin and her maternal uncle. Proband's maternal grandmother and aunt do not have the mutation.
  
  
  CONCLUSIONS
  The members of this family that were studied meet the criteria of classic LFS and the described mutation increases their susceptibility to develop cancer. The proband's maternal grandfather died of lung cancer in 1993, and we believe that he was the carrier of the mutation in this family.
authors.affiliation: Biological Research Unit, Hospital Universitario de Cruces, Barakaldo, Vizcaya, Spain. olaia.aurtenetxesaez@osakidetza.net
authors.forename: Olaia
authors.initials: O
authors.lastname: Aurtenetxe Sáez
authors.forename: Begoña
authors.initials: B
authors.lastname: Calvo
authors.forename: Ana
authors.initials: A
authors.lastname: Fernández-Teijeiro
authors.forename: Pedro
authors.initials: P
authors.lastname: Pérez
authors.forename: Aurora
authors.initials: A
authors.lastname: Navajas
mesh_terms: D000328:Adult; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D018095:Germ-Line Mutation / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D007223:Infant; D016864:Li-Fraumeni Syndrome / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011379:Prognosis; D011446:Prospective Studies; D015996:Survival Rate; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D004273:DNA, Neoplasm; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53