Prevalence of BRCA1 and BRCA2 genomic rearrangements in a cohort of consecutive Italian breast and/or ovarian cancer families

Amelia Buffone, Carlo Capalbo, Enrico Ricevuto, Tina Sidoni, Laura Ottini, Mario Falchetti, Enrico Cortesi, Paolo Marchetti, Giovanni Scambia, Silverio Tomao, Christian Rinaldi, Massimo Zani, Sergio Ferraro, Luigi Frati, Isabella Screpanti, Alberto Gulino, Giuseppe Giannini

Research output: Contribution to journalArticlepeer-review


Germline point mutations in BRCA1 and BRCA2 genes account for about 30% of the inherited breast and ovarian cancers. Germline genomic rearrangements have been found in both BRCA1 and BRCA2 genes, but the extent to which these alterations might contribute to increasing the actual mutation detection rate is still debated. Here we screened a cohort of 112 consecutive Italian families at moderate-to-high risk for breast and/or ovarian cancer for BRCA1 and BRCA2 point mutations and genomic rearrangements. Of the 83 point mutation negative probands, two (2.4%) showed BRCA1 rearrangements, accounting for 10.5% of the BRCA1 mutations. BRCA1 del18-19 has been previously described in another Italian family, while the molecular characterization of the BRCA1 del23-24 is given here for the first time. Conversely, we failed to identify any BRCA2 rearrangements even in the hereditary breast cancer families, where we detected an higher prevalence of BRCA2 compared to BRCA1 point mutations. Our results support the idea that search for BRCA1 rearrangements should be included in the genetic screening of even moderate risk breast/ovarian cancer families. In contrast, they suggest BRCA2 rearrangements might be very rare out of the high risk families including a male breast cancer.

Original languageEnglish
Pages (from-to)289-296
Number of pages8
JournalBreast Cancer Research and Treatment
Issue number2
Publication statusPublished - Dec 2007


  • BRCA1
  • BRCA2
  • Breast cancer
  • Genomic rearrangements
  • Ovarian cancer

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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