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Annals of Oncology 2007 18(Supplement 6):vi99-vi102; doi:10.1093/annonc/mdm235
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© 2007 European Society for Medical Oncology

breast and ovarian cancer

4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily)

A Russo1,*, V Calò1, C Augello1, L Bruno1, V Agnese1, V Schirò1, F Barbera1, S Cascio1, E Foddai1,3, G Badalamenti1, C Intrivici1, M Cajozzo5, G Gulotta6, E Surmacz2, G Colucci4, N Gebbia1 and V Bazan1

1 Department of Surgery and Oncology, Regional Reference Centre for the Biomolecular Characterization and Genetic Screening of Hereditary Tumors, University of Palermo, Palermo, Italy
2 Sbarro Institute for Cancer Research and Molecular Medicine, College of Science and Technology, Temple University, Philadelphia, PA, USA
3 Department of psychology, University of Palermo, Palermo
4 Division of Medical Oncology, National Institute of Oncology, Bari
5 Section of General and Thoracic Surgery, Department of GENURTO, Università di Palermo, Palermo
6 Department of GENURTO, Università di Palermo, Italy

* Correspondence to: Antonio Russo, MD Department of Surgery and Oncology, Regional Reference Centre for the Biomolecular Characterization and Genetic Screening of Hereditary Tumors, University of Palermo, Via Veneto 5, 90144 Palermo, Italy Tel/Fax: +39-91-6554529; E-mail: lab-oncobiologia{at}usa.net

Background: The frequency and the type of BRCA1 mutations vary widely and might have different geographic and ethnic distribution. Most of these alterations are generally found in isolated populations as a consequence of the founder effect. The object of this study was to determine whether 4843delC, a deleterious mutation of the BRCA1 gene, might be due to a founder effect originating in the Sicilian region of Italy. This mutation was described by us for the first time and identified in two unrelated Sicilian families with hereditary breast/ovarian cancer. The two families were from the same geographical area (south-western area of Palermo, Sicily). The homogeneity of the ethnic group of the two families and the Single Nucleotide Polymorphism (SNPs) analysis of probands led us to perform a study of the allelotype of the various members.

Patients and methods: The analysis of the haplotype of the probands and of several family members was conducted by means of a study of the highly polymorphic microsatellites within or flanking the BRCA1 gene.

Results: This analysis revealed the presence of a common allele associated with the mutation.

Conclusions: We therefore conclude that 4843delC of the BRCA1 gene is a possible founder mutation in the Sicilian population.

Key words: BRCA1 gene, founder mutation, genetic counseling, haplotype analysis, haplotype frequency


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