Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome

Extensive molecular screening of the BRCA1/2 (BRCA) genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel BRCA1 synonymous variant discovered in a family with hereditary o...

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Detalles Bibliográficos
Autores principales: Minucci, Angelo, Concolino, Paola, De Bonis, Maria, Costella, Alessandra, Paris, Ida, Scambia, Giovanni, Capoluongo, Ettore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938031/
https://www.ncbi.nlm.nih.gov/pubmed/29760936
http://dx.doi.org/10.1038/s41439-018-0003-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938031/
https://www.ncbi.nlm.nih.gov/pubmed/29760936
http://dx.doi.org/10.1038/s41439-018-0003-0

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