Article
A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.
International journal of molecular sciences - 21 Dec 2016
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
Abstract excerpt
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 patients; and to initiate preventive measures in healthy carriers. The pathophysiological significance of newly...
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