BRCA1 and BRCA2 mutations in central and southern Italian patients

Laura Ottini, Cristina D'Amico, Cristiana Noviello, Salvatore Lauro, Maurizio Lalle, Giuseppe Fornarini, Orsola Anna Colantuoni, Claudia Pizzi, Enrico Cortesi, Sandro Carlini, Fiorella Guadagni, Angelo Raffaele Bianco, Luigi Frati, Alma Contegiacomo, Renato Mariani-Costantini

Research output: Contribution to journalArticlepeer-review


Protein truncation test (PTT) and single-strand conformation polymorphism (SSCP) assay were used to scan the BRCA1 and BRCA2 genes in 136 unrelated Italian breast/ovarian cancer patients. In the sample tested, BRCA1 and BRCA2 equally contributed to site-specific breast cancer patients who reported one to two breast cancer-affected first-/second-degree relative(s) or who were diagnosed before age 40 years in the absence of a family history of breast/ovarian cancer. BRCA1 and BRCA2 mutations were mostly found in patients with disease diagnosis before and after age 50 years, respectively. Moreover, in cases with familial clustering of site-specific breast cancer, BRCA1 mostly accounted for tumours diagnosed before age 40 years and BRCA2 for tumours diagnosed after age 50 years. The BRCA1 and BRCA2 mutation spectrum was consistent with a lack of significant founder effects in the sample of patients studied.

Original languageEnglish
Pages (from-to)307-310
Number of pages4
JournalBreast Cancer Research
Issue number4
Publication statusPublished - 2000


  • BRCA1
  • BRCA2
  • Breast
  • Carcinoma
  • Germline mutations
  • Italy

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


Dive into the research topics of 'BRCA1 and BRCA2 mutations in central and southern Italian patients'. Together they form a unique fingerprint.

Cite this