BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling (Articolo in rivista)

Type
Label
  • BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling (Articolo in rivista) (literal)
Anno
  • 2002-01-01T00:00:00+01:00 (literal)
Alternative label
  • Palmieri G., Palomba G., Cossu A., Pisano M., Dedola M., Sarobba M., Farris A., Olmeo N., Contu A., Pasca A., Satta M., Persico I, Carboni A., Cossu-Rocca P., Contini M., Mangion J., Stratton M., Tanda F. (2002)
    BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling
    in Annals of oncology
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Palmieri G., Palomba G., Cossu A., Pisano M., Dedola M., Sarobba M., Farris A., Olmeo N., Contu A., Pasca A., Satta M., Persico I, Carboni A., Cossu-Rocca P., Contini M., Mangion J., Stratton M., Tanda F. (literal)
Pagina inizio
  • 1899 (literal)
Pagina fine
  • 1907 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 13 (literal)
Rivista
Note
  • Scopus (literal)
  • ISI Web of Science (WOS) (literal)
  • PubMed (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Molecular Genetics, Consiglio Nazionale Ricerche, Alghero; Institute of Pathology, University of Sassari; Department of Radiotherapy and Department of Medical Oncology, University of Sassari; Department of Medical Oncology, Civil Hospital, Azienda Sanitaria Locale 1; Laboratory II, Azienda Sanitaria Locale 1, Sassari, Italy; Institute of Cancer Research, Sutton, Surrey; Cancer Genome Project, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK (literal)
Titolo
  • BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling (literal)
Abstract
  • Background: Sardinian population is genetically homogeneous and seems to be instrumental to better understand the genetic counterpart of a complex disease like breast cancer (BC). Patients and Methods: Using a screening assay based on a combination of SSCP, DHPLC, and sequence analysis, 47 Sardinian families with three or more BC cases were screened for germline mutations in BRCA1 and BRCA2 genes. Results: Three BRCA1/2 germline sequence variants were identified. While BRCA2-Ile3412Val is a missense variant with unknown functional significance, BRCA2-8765delAG and BRCA1-Lys505ter are two deleterious mutations (due to their predicted effects on protein truncation), which were found in seven (15%) families. BRCA2-8765delAG was found in 6/8 (75%) BRCA1/2-positive families and 7/501 (1.4%) unselected and consecutively collected breast cancer patients. Prevalence of BRCA1/2 mutations in BC families was significantly correlated to the total number of female breast cancers (P<0.01) and increased by the presence of a) at least one case of ovarian or male-breast cancer; or b) three generations affected, or c) bilateral breast cancer. Conclusions: Identification of such features should address BC patients and their families to genetic counseling and BRCA1/2 mutational analysis. In addition, this is the first report of a detailed BRCA1/2 mutation screening in Sardinia, having immediate implications for the clinical management of BC families (literal)
Prodotto di
Autore CNR

Incoming links:


Prodotto
Autore CNR di
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
data.CNR.it