Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

PURPOSE: Current interpretation guidelines for germline variants in high-risk cancer susceptibility genes consider predicted loss-of-function (LoF) variants, such as nonsense variants and variants in the canonical splice site sequences ofBRCA2, to be associated with high cancer risk. However, some v...

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Detalles Bibliográficos
Autores principales: Mesman, Romy L. S., Calléja, Fabienne M. G. R., de la Hoya, Miguel, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394881/
https://www.ncbi.nlm.nih.gov/pubmed/32398771
http://dx.doi.org/10.1038/s41436-020-0814-5

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