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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Arason, Adalgeir, Agnarsson, Bjarni A, Johannesdottir, Gudrun, Johannsson, Oskar Th, Hilmarsdottir, Bylgja, Reynisdottir, Inga, Barkardottir, Rosa B
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6896150/
https://ncbi.nlm.nih.gov/pubmed/31683985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10110882
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados