title: Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer.
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.
authors.affiliation: Dipartimento di Medicina Sperimentale e Clinica "G. Salvatore", Università degli Studi di Catanzaro "Magna Graecia", Italy.
authors.forename: F
authors.initials: F
authors.lastname: Baudi
authors.forename: B
authors.initials: B
authors.lastname: Quaresima
authors.forename: C
authors.initials: C
authors.lastname: Grandinetti
authors.forename: G
authors.initials: G
authors.lastname: Cuda
authors.forename: C
authors.initials: C
authors.lastname: Faniello
authors.forename: P
authors.initials: P
authors.lastname: Tassone
authors.forename: V
authors.initials: V
authors.lastname: Barbieri
authors.forename: R
authors.initials: R
authors.lastname: Bisegna
authors.forename: E
authors.initials: E
authors.lastname: Ricevuto
authors.forename: S
authors.initials: S
authors.lastname: Conforti
authors.forename: A
authors.initials: A
authors.lastname: Viel
authors.forename: P
authors.initials: P
authors.lastname: Marchetti
authors.forename: C
authors.initials: C
authors.lastname: Ficorella
authors.forename: P
authors.initials: P
authors.lastname: Radice
authors.forename: F
authors.initials: F
authors.lastname: Costanzo
authors.forename: S
authors.initials: S
authors.lastname: Venuta
mesh_terms: D000328:Adult; D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D018703:Founder Effect; D019398:Genes, BRCA1; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D007558:Italy / Q000208:ethnology; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational