The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability

Mutations in BRCA1 result in predisposal to breast and ovarian cancers, but many variants exist with unknown clinical significance (VUS). One is BRCA1 c.4096+3A>G, which affects production of the full-length BRCA1 transcript, while augmenting transcripts lacking most or all of exon 11. Nonetheles...

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Detalles Bibliográficos
Autores principales: Arason, Adalgeir, Agnarsson, Bjarni A, Johannesdottir, Gudrun, Johannsson, Oskar Th, Hilmarsdottir, Bylgja, Reynisdottir, Inga, Barkardottir, Rosa B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896150/
https://www.ncbi.nlm.nih.gov/pubmed/31683985
http://dx.doi.org/10.3390/genes10110882

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896150/
https://www.ncbi.nlm.nih.gov/pubmed/31683985
http://dx.doi.org/10.3390/genes10110882

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