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Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?
- Publication Year :
- 2009
-
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.
- Subjects :
- Male
Cancer Research
Settore MED/06 - Oncologia Medica
Population
BRCA1, breast cancer
Breast Neoplasms
Biology
Risk Assessment
Allelotype Analysis
Reference Values
Humans
Allele
education
Sicily
Sequence Deletion
Ovarian Neoplasms
Genetics
education.field_of_study
BRCA1 Protein
Haplotype
Founder Effect
language.human_language
Pedigree
Oncology
Mutation
Mutation (genetic algorithm)
language
Microsatellite
Female
Sicilian
Microsatellite Repeats
Founder effect
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....c7408b1e3851a859aa60ee1c3f992243