title: [Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers].
abstract: BACKGROUND
  Li-Fraumeni syndrome is a dominantly inherited disorder characterized by early-onset breast cancer, soft-tissue sarcomas and osteosarcomas, acute leukemia, adrenocortical neoplasms and central nervous system tumors. Germline mutations in gene TP53 are identified in a percentage of affected families.
  
  
  METHODS
  Eight families with aggregation of childhood sarcomas, brain tumors, breast cancers in pre-menopausal women, and renal tumors were screened for TP53 germ-line mutations. SSCP and posterior direct sequencing were performed for genetic analysis. We also report a previously undescribed family with the Li-Fraumeni syndrome carrying a germline mutation.
  
  
  RESULTS
  Seven families fulfilled so-called Li-Fraumeni like criteria and one fulfilled classical criteria. A new germ-line mutation in codon 238 at exon 7 of the gene TP53 was identified in the family fulfilling classical criteria. This mutation has not been previously reported.
  
  
  CONCLUSIONS
  The clinical heterogeneity as well as the molecular complexity and consequences of mutation analysis and genetic counseling make it necessary to develop protocols in this area. A multidisciplinary approach is needed; this approach should be coordinated by a Familial Cancer Genetic Counseling Unit.
authors.affiliation: Servicio de Oncología Médica, Hospital de la Santa Creu i Sant Pau, Barcelona, España. jbalmana@hsp.santpau.es
authors.forename: Judith
authors.initials: J
authors.lastname: Balmaña
authors.forename: Josep
authors.initials: J
authors.lastname: Nomdedéu
authors.forename: Orland
authors.initials: O
authors.lastname: Díez
authors.forename: Josep Maria
authors.initials: JM
authors.lastname: Sabaté
authors.forename: Anna
authors.initials: A
authors.lastname: Balil
authors.forename: Carles
authors.initials: C
authors.lastname: Pericay
authors.forename: Juan José
authors.initials: JJ
authors.lastname: López López
authors.forename: Joan
authors.initials: J
authors.lastname: Brunet
authors.forename: Montse
authors.initials: M
authors.lastname: Baiget
authors.forename: Carmen
authors.initials: C
authors.lastname: Alonso
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree