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

Antonio Russo (1) , Valentina Calò (1) , Loredana Bruno (1) , Valentina Schirò (1) , Valentina Agnese (1) , Sandra Cascio (1) , Elena Foddai (1) , Daniele Fanale (1) , Sergio Rizzo (1) , Francesca Gaudio (2) , Eliana Gulotta (3) , Eva Surmacz (4) , Gaetana Fede (1) , Viviana Bazan (1)

1 Department of Oncology, Section of Medical Oncology, Regional Reference Center for the Biomolecular Characterization and Genetic Screening of Hereditary Tumors
2 Department of Medical Biotechnologies and Legal Medicine
3 Department of GENURTO
4 Sbarro Institute for Cancer Research and Molecular Medicine, College of Science and Technology

Various studies have been published in Italy regarding the different mutations, but only the -5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, -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 -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.

Mots clés: gene; Founder mutation; Haplotype analysis; Hereditary breast and ovarian cancer; Sicilian patients

Antonio Russo, Valentina Calò, Loredana Bruno, Valentina Schirò, Valentina Agnese, et al.. Is -5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?. Breast Cancer Research and Treatment, 2008, 113 (1), pp.67-70. ⟨10.1007/s10549-008-9906-7⟩. ⟨hal-00478303⟩