Clinical and Translational Oncology

, Volume 14, Issue 5, pp 396–398 | Cite as

A prospective biological study in relation to a family with Li-Fraumeni syndrome

  • Olaia Aurtenetxe SáezEmail author
  • Begoña Calvo
  • Ana Fernández-Teijeiro
  • Pedro Pérez
  • Aurora Navajas
Brief Research Articles



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.

Materials and 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.


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.


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.


TP53 Li-Fraumeni syndrome Germline mutation p53 


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  1. 1.
    Li FP, Fraumeni JF Jr (1982) Prospective study of a family cancer syndrome. JAMA 247:2692–2694PubMedCrossRefGoogle Scholar
  2. 2.
    Li FP, Faumeni JF Jr, Mulvihill JJ et al (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358–5362PubMedGoogle Scholar
  3. 3.
    Eng C, Hampel H, de la Chapelle A (2001) Genetic testing for cancer predisposition. Annu Rev Med 52:371–400. Review. Erratum in: Annu Rev Med 2002:53:xiPubMedCrossRefGoogle Scholar
  4. 4.
    Frebourg T, Barbier N, Yan YX et al (1995) Germline p53 mutations in 15 families with Li-Fraumeni syndrome. Am J Hum Genet 56:608–615PubMedGoogle Scholar
  5. 5.
    Varley JM (2003) Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 21:313–320PubMedCrossRefGoogle Scholar
  6. 6.
    Soussi T, Béroud C (2001) Assessing TP53 status in human tumours to evaluate clinical outcome. Nat Rev Cancer 1:233–240PubMedCrossRefGoogle Scholar
  7. 7.
    Olivier M, Goldgar DE, Sodha N et al (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63:6643–6650PubMedGoogle Scholar
  8. 8.
    Kouidou S, Malousi A, Maglaveras N (2009) Li-Fraumeni and Li-Fraumeni-Like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements. Mol Car 48:895–902CrossRefGoogle Scholar
  9. 9.
    Lutsbader ED, Williams WR, Bondy ML et al (1992) Segregation analysis of cancer in families of childhood soft tissue sarcoma patients. Am J Hum Genet 51:344–356Google Scholar
  10. 10.
    LeBihan C, Moutou C, Brugières L et al (1995) ARCAD: a method for estimating age-dependent disease risk associated with mutation carrier status from family data. Genetic Epidemiol 12:13–25CrossRefGoogle Scholar
  11. 11.
    Wu CC, Shete S, Amos CI, Strong LC (2006) Join effects of germ-line p53 mutation and sex on cancer risk in Li-Fraumeni Syndrome. Cancer Res 66:8287–8292PubMedCrossRefGoogle Scholar
  12. 12.
    Birch JM, Blair V, Kelsey AM et al (1998) Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene 17:1061–1068PubMedCrossRefGoogle Scholar
  13. 13.
    Toguchida J, Yamaguchi T, Ritchie B et al (1992) Mutation spectrum of the p53 gene in bone and soft tissue sarcomas. Cancer Res 52:6194–6199PubMedGoogle Scholar

Copyright information

© Feseo 2012

Authors and Affiliations

  • Olaia Aurtenetxe Sáez
    • 1
    Email author
  • Begoña Calvo
    • 1
  • Ana Fernández-Teijeiro
    • 2
  • Pedro Pérez
    • 3
  • Aurora Navajas
    • 4
  1. 1.Biological Research Unit Edif. Anatomía Patológica, 2.a plantaHospital Universitario de CrucesBarakaldo, VizcayaSpain
  2. 2.Paediatric Oncology UnitHospital Virgen MacarenaSevillaSpain
  3. 3.Genetic Counseling UnitHospital Clínico San CarlosMadridSpain
  4. 4.Paediatric Hematology/Oncology UnitHospital Universitario de CrucesBarakaldo, VizcayaSpain

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