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http://purl.uniprot.org/citations/17640379http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/17640379http://www.w3.org/2000/01/rdf-schema#comment"

Background

The BRCA2-8765delAG mutation was firstly described in breast cancer families from French-Canadian and Jewish-Yemenite populations; it was then reported as a founder mutation in Sardinian families. We evaluated both the prevalence of the BRCA2-8765delAG variant in Sardinia and the putative existence of a common ancestral origin through a haplotype analysis of breast cancer family members carrying such a mutation.

Methods

Eight polymorphic microsatellite markers (D13S1250, centromeric, to D13S267, telomeric) spanning the BRCA2 gene locus were used for the haplotype analysis. Screening for the 8765delAG mutation was performed by PCR-based amplification of BRCA2-exon 20, followed by automated sequencing.

Results

Among families with high recurrence of breast cancer (> or = 3 cases in first-degree relatives), those from North Sardinia shared the same haplotype whereas the families from French Canadian and Jewish-Yemenite populations presented distinct genetic assets at the BRCA2 locus. Screening for the BRCA2-8765delAG variant among unselected and consecutively-collected breast cancer patients originating from the entire Sardinia revealed that such a mutation is present in the northern part of the island only [9/648 (1.4%) among cases from North Sardinia versus 0/493 among cases from South Sardinia].

Conclusion

The BRCA2-8765delAG has an independent origin in geographically and ethnically distinct populations, acting as a founder mutation in North but not in South Sardinia. Since BRCA2-8765delAG occurs within a triplet repeat sequence of AGAGAG, our study further confirmed the existence of a mutational hot-spot at this genomic position (additional genetic factors within each single population might be involved in generating such a mutation)."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.org/dc/terms/identifier"doi:10.1186/1471-2407-7-132"xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/author"Palmieri G."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/author"Friedman E."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/author"Palomba G."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/author"Cossu A."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/author"Budroni M."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/author"Baldinu P."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/author"Sini M.C."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/author"Tanda F."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/author"Pisano M."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/author"Contu A."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/author"Farris A."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/date"2007"xsd:gYear
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/name"BMC Cancer"xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/pages"132"xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/title"Origin and distribution of the BRCA2-8765delAG mutation in breast cancer."xsd:string
http://purl.uniprot.org/citations/17640379http://purl.uniprot.org/core/volume"7"xsd:string
http://purl.uniprot.org/citations/17640379http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/17640379
http://purl.uniprot.org/citations/17640379http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/17640379
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