A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA

About 10% of all breast cancers arise from hereditary mutations that increase the risk of breast and ovarian cancers; and about 25% of these are associated with the BRCA1 or BRCA2 genes. The identification of BRCA1/BRCA2 mutations can enable physicians to better tailor the clinical management of pat...

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Bibliographic Details
Published in:Int J Mol Sci
Main Authors: Esposito, Maria Valeria, Nunziato, Marcella, Starnone, Flavio, Telese, Antonella, Calabrese, Alessandra, D’Aiuto, Giuseppe, Pucci, Pietro, D’Aiuto, Massimiliano, Baralle, Francisco, D’Argenio, Valeria, Salvatore, Francesco
Format: Artigo
Language:Inglês
Published: MDPI 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5187945/
https://ncbi.nlm.nih.gov/pubmed/28009814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms17122145
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