Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families

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

Research output: Contribution to journalArticlepeer-review

Abstract

Familial aggregations of breast/ovarian cancer cases frequently depend on BRCA1/2 pathogenic mutations. Here we counselled 120 Italian breast/ovarian cancer families and selected 73 probands for BRCA1/2 mutation screening. Through this analysis we defined the prevalence of BRCA1/2 pathogenic mutations occurring in Italian breast/ovarian cancer families, enlarged the spectrum of Italian BRCA1/2 mutations by 15% and report on the identification of 13 novel variants, including two deleterious truncating mutations and two potentially pathogenic missense mutations, on the BRCA1 and BRCA2 genes. Finally in hereditary breast cancer families with three or more female breast cancer cases we observed a low mutation prevalence and a significant association with BRCA2 mutations.

Original languageEnglish
Pages (from-to)83-91
Number of pages9
JournalBreast Cancer Research and Treatment
Volume100
Issue number1
DOIs
Publication statusPublished - Nov 2006

Keywords

  • BRCA1
  • BRCA2
  • Breast cancer
  • Familial cancer
  • Ovarian cancer

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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