Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays

Genetic testing of BRCA1 and BRCA2 identifies a large number of variants of uncertain clinical significance whose functional and clinical interpretations pose a challenge for genetic counseling. Interestingly, a relevant fraction of DNA variants can disrupt the splicing process in cancer susceptibil...

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Udgivet i:Front Genet
Main Authors: Fraile-Bethencourt, Eugenia, Valenzuela-Palomo, Alberto, Díez-Gómez, Beatriz, Acedo, Alberto, Velasco, Eladio A.
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2018
Fag:
Genetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5977032/
https://ncbi.nlm.nih.gov/pubmed/29881398
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00188
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