system
Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: BACKGROUND, METHODS, RESULTS. Meshes: Breast Neoplasms, DNA Mutational Analysis, Female, Founder Effect, Gene Deletion, Genes, BRCA1, Haplotypes, Humans, Male, Microsatellite Repeats, Ovarian Neoplasms, Pedigree, Sicily.
user
Is 4843delC of the BRCA1 gene a possible founder mutation in Southern Italy ( Sicily )? Context: 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. 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. This analysis revealed the presence of a common allele associated with the mutation.
assistant
We therefore conclude that 4843delC of the BRCA1 gene is a possible founder mutation in the Sicilian population. Final Decision: yes