A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population (Articolo in rivista)

Type
Label
  • A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population (Articolo in rivista) (literal)
Anno
  • 2009-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1186/1471-2407-9-245 (literal)
Alternative label
  • Palomba G; Loi A; Uras A; Fancello P; Piras G; Gabbas A; Cossu A; Budroni M; Contu A; Tanda F; Farris A; Orrù S; Floris C; Pisano M; Lovicu M; Santona MC; Landriscina G; Crisponi L; Palmieri G; Monne M. (2009)
    A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population
    in BMC cancer (Online)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Palomba G; Loi A; Uras A; Fancello P; Piras G; Gabbas A; Cossu A; Budroni M; Contu A; Tanda F; Farris A; Orrù S; Floris C; Pisano M; Lovicu M; Santona MC; Landriscina G; Crisponi L; Palmieri G; Monne M. (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 9 (literal)
Rivista
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  • article245pp10 (literal)
Note
  • ISI Web of Science (WOS) (literal)
  • Scopu (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Istituto Chimica Biomolecolare-CNR, Italy Istituto di Neurogenetica e Neurofarmacologia-CNR, Italy U. O. Ematologia, Ospedale San Francesco, Azienda USL3 Nuoro, Italy Azienda USL1Sassari, Italy Università di Sassari, Sassari, Italy 6Ospedale Oncologico A. Businco, Azienda USL8, Cagliari, Italy 7U.O. Oncologia, Ospedale C. Zonchello, Azienda USL3, via Mannironi, 08100 Nuoro, Italy (literal)
Titolo
  • A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population (literal)
Abstract
  • Background: In recent years, numerous studies have assessed the prevalence of germline mutations in BRCA1 and BRCA2 genes in various cohorts. We here extensively investigated the prevalence and geographical distribution of BRCA1-2 mutations in the entire genetically-homogeneous Sardinian population. The occurrence of phenotypic characteristics which may be predictive for the presence of BRCA1-2 germline mutations was also evaluated. Methods: Three hundred and forty-eight breast cancer patients presenting a familial recurrence of invasive breast or ovarian carcinoma with at least two affected family members were screened for BRCA1-2 mutations by DHPLC analysis and DNA sequencing. Association of BRCA1 and BRCA2 mutational status with clinical and pathological parameters was evaluated by Pearson's Chi-Squared test. Results and Conclusion: Overall, 8 BRCA1 and 5 BRCA2 deleterious mutations were detected in 35/348 (10%) families; majority (23/35;66%) of mutations was found in BRCA2 gene. The geographical distribution of BRCA1-2 mutations was related to three specific large areas of Sardinia, reflecting its ancient history: a) the Northern area, linguistically different from the rest of the island (where a BRCA2 c.8764_8765delAG mutation with founder effect was predominant); b) the Middle area, land of the ancient Sardinian population (where BRCA2 mutations are still more common than BRCA1 mutations); and c) the South-Western area, with many Phoenician and Carthaginian locations (where BRCA1 mutations are prevalent). We also found that phenotypic features such as high tumor grading and lack of expression of estrogen/progesterone receptors together with age at diagnosis and presence of ovarian cancer in the family may be predictive for the presence of BRCA1-2 germline mutations. © 2009 Palomba et al; licensee BioMed Central Ltd. (literal)
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