BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype

We have investigated the clinical significance of the BRCA1 variant p.His1673del in 14 families from the Emilia-Romagna region of Italy, including 20 breast and 23 ovarian cancer cases; four families displayed site-specific ovarian cancer. The variant, absent in human variation databases, has been r...

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Detalles Bibliográficos
Autores principales: Zuntini, Roberta, Cortesi, Laura, Calistri, Daniele, Pippucci, Tommaso, Martelli, Pier Luigi, Casadio, Rita, Capizzi, Elisa, Santini, Donatella, Miccoli, Sara, Medici, Veronica, Danesi, Rita, Marchi, Isabella, Zampiga, Valentina, Fiorentino, Michelangelo, Ferrari, Simona, Turchetti, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5410251/
https://www.ncbi.nlm.nih.gov/pubmed/28186987
http://dx.doi.org/10.18632/oncotarget.15151

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