✦ LIBER ✦

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

✍ Scribed by Francesco Baudi; Barbara Quaresima; Cristina Grandinetti; Giovanni Cuda; Concetta Faniello; Pierfrancesco Tassone; Vito Barbieri; Roberta Bisegna; Enrico Ricevuto; Serafino Conforti; Alessandra Viel; Paolo Marchetti; Corrado Ficorella; Paolo Radice; Francesco Costanzo; Salvatore Venuta

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 140 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1167

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✦ Synopsis

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.

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