Origin and distribution of the BRCA2-8765delAG mutation in breast cancer (Articolo in rivista)

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Label
  • Origin and distribution of the BRCA2-8765delAG mutation in breast cancer (Articolo in rivista) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1186/1471-2407-7-132 (literal)
Alternative label
  • Palomba G; Cossu A; Friedman E; Budroni M; Farris A; Contu A; Pisano M; Baldinu P; Sini MC; Tanda F; Palmieri G (2007)
    Origin and distribution of the BRCA2-8765delAG mutation in breast cancer
    in BMC cancer (Online)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Palomba G; Cossu A; Friedman E; Budroni M; Farris A; Contu A; Pisano M; Baldinu P; Sini MC; Tanda F; Palmieri G (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.biomedcentral.com/1471-2407/7/132 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 7 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • article132pp2 (literal)
Note
  • ISI Web of Science (WOS) (literal)
  • Scopu (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Istituto di Chimica Biomolecolare-Consiglio Nazionale Ricerche, Sassari, Italy; Servizio di Anatomia Patologica, Azienda USL1, Sassari, Italy; Chaim Sheba Medical Center, Tel-Hashomer, Israel; Centro Epidemiologico Multizonale, Azienda USL1, Sassari, Italy; Università degli Studi di Sassari, Italy; Ospedale Civile, Azienda USL1, Sassari, Italy (literal)
Titolo
  • Origin and distribution of the BRCA2-8765delAG mutation in breast cancer (literal)
Abstract
  • 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. 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. Among families with high recurrence of breast cancer (> 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. (literal)
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