Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis

A substantial proportion of pathogenic variants associated with an increased risk of hereditary cancer are sequence variants affecting RNA splicing. The classification of these variants can be complex when both non-functional and functional transcripts are produced from the variant allele. We presen...

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Detalles Bibliográficos
Autores principales: Nix, Paola, Mundt, Erin, Coffee, Bradford, Goossen, Elizabeth, Warf, Bryan M., Brown, Krystal, Bowles, Karla, Roa, Benjamin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8799590/
https://www.ncbi.nlm.nih.gov/pubmed/33469799
http://dx.doi.org/10.1007/s10689-020-00224-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8799590/
https://www.ncbi.nlm.nih.gov/pubmed/33469799
http://dx.doi.org/10.1007/s10689-020-00224-y

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