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

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
Main Authors: Maria Valeria Esposito, Marcella Nunziato, Flavio Starnone, Antonella Telese, Alessandra Calabrese, Giuseppe D’Aiuto, Pietro Pucci, Massimiliano D’Aiuto, Francisco Baralle, Valeria D’Argenio, Francesco Salvatore
Format: Article
Language:English
Published: MDPI AG 2016-12-01
Series:International Journal of Molecular Sciences
Subjects:
breast cancer
BRCA1
next generation sequencing
splicing mutation
partial intron retention
Online Access:http://www.mdpi.com/1422-0067/17/12/2145

Internet

http://www.mdpi.com/1422-0067/17/12/2145

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