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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Detalles Bibliográficos
Autores principales: Fraile-Bethencourt, Eugenia, Valenzuela-Palomo, Alberto, Díez-Gómez, Beatriz, Acedo, Alberto, Velasco, Eladio A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5977032/
https://www.ncbi.nlm.nih.gov/pubmed/29881398
http://dx.doi.org/10.3389/fgene.2018.00188

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5977032/
https://www.ncbi.nlm.nih.gov/pubmed/29881398
http://dx.doi.org/10.3389/fgene.2018.00188

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