title: 4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily).
abstract: 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.
  
  
  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.
authors.affiliation: Department of Surgery and Oncology, Regional Reference Centre for the Biomolecular Characterization and Genetic Screening of Hereditary Tumors, University of Palermo, Palermo, Italy. lab-oncobiologia@usa.net
authors.forename: A
authors.initials: A
authors.lastname: Russo
authors.forename: V
authors.initials: V
authors.lastname: Calò
authors.forename: C
authors.initials: C
authors.lastname: Augello
authors.forename: L
authors.initials: L
authors.lastname: Bruno
authors.forename: V
authors.initials: V
authors.lastname: Agnese
authors.forename: V
authors.initials: V
authors.lastname: Schirò
authors.forename: F
authors.initials: F
authors.lastname: Barbera
authors.forename: S
authors.initials: S
authors.lastname: Cascio
authors.forename: E
authors.initials: E
authors.lastname: Foddai
authors.forename: G
authors.initials: G
authors.lastname: Badalamenti
authors.forename: C
authors.initials: C
authors.lastname: Intrivici
authors.forename: M
authors.initials: M
authors.lastname: Cajozzo
authors.forename: G
authors.initials: G
authors.lastname: Gulotta
authors.forename: E
authors.initials: E
authors.lastname: Surmacz
authors.forename: G
authors.initials: G
authors.lastname: Colucci
authors.forename: N
authors.initials: N
authors.lastname: Gebbia
authors.forename: V
authors.initials: V
authors.lastname: Bazan
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D017353:Gene Deletion; D019398:Genes, BRCA1; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010051:Ovarian Neoplasms / Q000235:genetics; D010375:Pedigree; D012802:Sicily