Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy

BACKGROUND: About 20 % of hereditary breast cancers are caused by mutations in BRCA1 and BRCA2 genes. Since BRCA1 and BRCA2 mutations may be spread throughout the gene, genetic testing is usually performed by direct sequencing of entire coding regions. In some populations, especially if relatively i...

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Publicat a:BMC Med Genet
Autors principals: Cini, Giulia, Mezzavilla, Massimo, Della Puppa, Lara, Cupelli, Elisa, Fornasin, Alessio, D’Elia, Angela Valentina, Dolcetti, Riccardo, Damante, Giuseppe, Bertok, Sara, Miolo, Gianmaria, Maestro, Roberta, de Paoli, Paolo, Amoroso, Antonio, Viel, Alessandra
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4744627/
https://ncbi.nlm.nih.gov/pubmed/26852130
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0274-6
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