BRCA1 and BRCA2 genes: Role in hereditary breast and ovarian cancer in Italy

Manuela Santarosa, Riccardo Dolcetti, Maria Donatella Magri, Diana Crivellari, Maria Grazia Tibiletti, Angelo Gallo, Salvatore Tumolo, Lara Della Puppa, Daniela Furlan, Mauro Boiocchi, Alessandra Viel

Research output: Contribution to journalArticlepeer-review


The heritable defects of BRCA1 and BRCA2 genes have been shown to predispose to breast and ovarian cancers. In a previous report, we analyzed 46 Italian families with breast and/or ovarian cancer for BRCA1 mutations. In the present study, those families and II others were screened for BRCA2 mutations; the newly enrolled families were also analyzed for the BRCA1 gene. The coding region and splice boundaries of BRCA2 and BRCA1 genes were assessed by the protein-truncation test and single-strand conformational polymorphism. A total of 20 different mutations were found in 21 families (37%). A total of 9 families (16%) showed mutations in the BRCA1 gene, including the one new mutation identified in this study (5382insC), and 12 families (21%) presented mutations in the BRCA2 gene. BRCA2-mutated families presented breast and ovarian cancers or breast cancers only, whereas most BRCA1-mutated families presented ovarian cancer alone or in association with breast cancer. All the BRCA2 mutations led to a truncated protein: 6 were frameshift mutations, 4 were non-sense mutations and 2 involved the intronic invariant region leading to splice variants. Therefore, in the Italian population, the cumulative proportion of BRCA1 and BRCA2 mutations was within the range observed in other studies (37%), with higher involvement of BRCA2 than of BRCA1. Many families in which no mutations were found presented a very high incidence of breast and/or ovarian cancer. Among the 36 BRCA1 and BRCA2 wild-type families, 24 presented at least 4 cancer cases, indicating the existence of other important predisposing genes.

Original languageEnglish
Pages (from-to)5-9
Number of pages5
JournalInternational Journal of Cancer
Issue number1
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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