Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples. (Articolo in rivista)

Type
Label
  • Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples. (Articolo in rivista) (literal)
Anno
  • 2002-01-01T00:00:00+01:00 (literal)
Alternative label
  • Curci A, Capasso I, Romano A, Bruni P, Motti ML, Pignata S, D'Aiuto G, Casamassimi A, D'Urso M, Fusco A, Viglietto G. (2002)
    Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples.
    in International journal of oncology
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Curci A, Capasso I, Romano A, Bruni P, Motti ML, Pignata S, D'Aiuto G, Casamassimi A, D'Urso M, Fusco A, Viglietto G. (literal)
Pagina inizio
  • 963 (literal)
Pagina fine
  • 970 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 20 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Titolo
  • Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples. (literal)
Abstract
  • We have analyzed 18 families with high incidence of breast cancer or breast and ovarian cancer for the presence of BRCA1 mutations. We identified 4 mutations in the BRCA1 gene in 4 unrelated probands who belong to families with at least 1 case of breast and 1 case of ovarian cancer. Two of the mutations reported in this study are novel (GAA(1172)-->TAA in family Naples 14, GAA(1765)-->TAA in family Naples 20) whereas the others are already present in the Breast Cancer Information Core Electronic Database (http://nchgr.nih.gov/ Intramural research/Lab transfer/Bic/) (5382insC in family Naples 18 and 2080delA in family Naples 19). Conversely, no mutation in the BRCA1 gene was detected in 14 families characterized by 2 or more cases of breast cancer only, even if bilateral and with early-onset. These results indicate that germline mutations in the BRCA1 gene highly predispose for a cancer syndrome that involves the presence of both breast and ovarian cancer. (literal)
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