Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?

Antonio Russo, Valentina Calò, Loredana Bruno, Valentina Schirò, Valentina Agnese, Sandra Cascio, Elena Foddai, Daniele Fanale, Sergio Rizzo, Francesca Di Gaudio, Eliana Gulotta, Eva Surmacz, Gaetana Di Fede, Viviana Bazan

Research output: Contribution to journalArticlepeer-review


Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these families had a common ancestor. This analysis showed that all mutation carriers of these families had a common allele. None of the non-carriers of the mutation or of the 50 healthy Sicilian controls showed this haplotype. This allelotype analysis highlighted the presence of a common allele (ancestor), thus suggesting the presence of a founder effect in the Sicilian population. Our results are in contrast with other studies but only the allelotype analysis of all the BRCA1-5083del19 mutation carriers of two neighboring regions of the south of Italy (Calabria and Sicily) will make it possible to identify the real ancestor of this mutation.

Original languageEnglish
Pages (from-to)67-70
Number of pages4
JournalBreast Cancer Research and Treatment
Issue number1
Publication statusPublished - Jan 2009


  • BRCA1 gene
  • Founder mutation
  • Haplotype analysis
  • Hereditary breast and ovarian cancer
  • Sicilian patients

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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