Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

SIMPLE SUMMARY: There is a significant percentage of hereditary breast and ovarian cancer (HBOC) cases that remain undiagnosed, because no pathogenic variant is detected through massively parallel sequencing of coding exons and exon-intron boundaries of high-moderate susceptibility risk genes. Deep...

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Detalles Bibliográficos
Autores principales: Moles-Fernández, Alejandro, Domènech-Vivó, Joanna, Tenés, Anna, Balmaña, Judith, Diez, Orland, Gutiérrez-Enríquez, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268271/
https://www.ncbi.nlm.nih.gov/pubmed/34283047
http://dx.doi.org/10.3390/cancers13133341

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268271/
https://www.ncbi.nlm.nih.gov/pubmed/34283047
http://dx.doi.org/10.3390/cancers13133341

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