title: Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?
abstract: 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.
authors.affiliation: Department of Oncology, Section of Medical Oncology, Regional Reference Center for the Biomolecular Characterization and Genetic Screening of Hereditary Tumors, Università di Palermo, Via del Vespro 127, 90127 Palermo, Italy. lab-oncobiologia@usa.net
authors.forename: Antonio
authors.initials: A
authors.lastname: Russo
authors.forename: Valentina
authors.initials: V
authors.lastname: Calò
authors.forename: Loredana
authors.initials: L
authors.lastname: Bruno
authors.forename: Valentina
authors.initials: V
authors.lastname: Schirò
authors.forename: Valentina
authors.initials: V
authors.lastname: Agnese
authors.forename: Sandra
authors.initials: S
authors.lastname: Cascio
authors.forename: Elena
authors.initials: E
authors.lastname: Foddai
authors.forename: Daniele
authors.initials: D
authors.lastname: Fanale
authors.forename: Sergio
authors.initials: S
authors.lastname: Rizzo
authors.forename: Francesca
authors.initials: F
authors.lastname: Di Gaudio
authors.forename: Eliana
authors.initials: E
authors.lastname: Gulotta
authors.forename: Eva
authors.initials: E
authors.lastname: Surmacz
authors.forename: Gaetana
authors.initials: G
authors.lastname: Di Fede
authors.forename: Viviana
authors.initials: V
authors.lastname: Bazan
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics; D010375:Pedigree; D012016:Reference Values; D018570:Risk Assessment; D017384:Sequence Deletion; D012802:Sicily / Q000208:ethnology
chemical_list: D019313:BRCA1 Protein