Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families

Siranoush Manoukian, Bernard Peissel, Valeria Pensotti, Monica Barile, Laura Cortesi, Silvia Stacchiotti, Monica Terenziani, Floriana Barbera, Graziella Pasquini, Simona Frigerio, Marco A. Pierotti, Paolo Radice, Gabriella Della-Torre

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The genetic aetiology of familial aggregations of breast cancer and sarcomas has been elucidated only in part. In this study, 23 unrelated individuals from families with one case of sarcoma and at least one case of breast cancer were screened for mutations in the TP53, BRCA1 and BRCA2 genes. Families were classified according to their conformity to the criteria defining the Li-Fraumeni syndrome (LFS), Li-Fraumeni-like (LFL) syndrome and hereditary breast/ovarian cancer (HBOC). Germline TP53 mutations were identified in three instances (13%), including one LFS and two LFL families, while none of the non-LFS/non-LFL families had a TP53 mutation. Three cases (13%), including one with a TP53 mutation, carried BRCA2 mutations. Of these, two were observed in LFL/HBOC families and the other one in a non-LFS/non-LFL/HBOC family, while none of the non-HBOC families tested positive. These findings suggest that the screening of BRCA2, in addition to TP53, may be appropriate for the molecular characterisation of breast cancer/sarcoma families, with practical implications for counselling and clinical management.

Original languageEnglish
Pages (from-to)601-606
Number of pages6
JournalEuropean Journal of Cancer
Issue number3
Publication statusPublished - Feb 2007


  • BRCA1
  • BRCA2
  • Breast cancer
  • Hereditary breast/ovarian cancer
  • Li-Fraumeni syndrome
  • Li-Fraumeni-like
  • Sarcoma
  • TP53

ASJC Scopus subject areas

  • Cancer Research
  • Hematology
  • Oncology


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