Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer.

F. Baudi, B. Quaresima, C. Grandinetti, G. Cuda, C. Faniello, P. Tassone, V. Barbieri, R. Bisegna, E. Ricevuto, S. Conforti, A. Viel, P. Marchetti, C. Ficorella, P. Radice, F. Costanzo, S. Venuta

Research output: Contribution to journalArticlepeer-review

Abstract

Several genes have been involved in the pathogenesis of hereditary breast/ovarian cancer (BOC), but mutations in the BRCA1 gene are by far the most recurrent. In this study, we report the identification of a founder mutation in a geographically and historically homogeneous population from Calabria, a south Italian region. A screening performed on 24 patients from unrelated families highlighted the high prevalence of a 5083del19 alteration in the BRCA1 gene, which accounts for 33% of the overall gene mutations. The same mutation was also detected in 4 patients, all of Calabrian origin, referred to us by research centres from the north of Italy. Allelotype analysis, performed on probands and unaffected family members revealed the presence a common allele, therefore suggesting a founder effect due to a common ancestor. Our findings underscore the importance of ethnic background homogeneity in patients' selection and highlight the usefulness of founder mutations as a potential tool for optimisation of preclinical diagnosis in gene carriers and therapeutic approaches in affected individuals.

Original languageEnglish
Pages (from-to)163-164
Number of pages2
JournalHuman Mutation
Volume18
Issue number2
Publication statusPublished - Aug 2001

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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