Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

Pathogenic germline mutations in the BRCA1 gene predispose carriers to early onset breast and ovarian cancer. Clinical genetic screening of BRCA1 often reveals variants with uncertain clinical significance, complicating patient and family management. Therefore, functional examinations are urgently n...

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Detalles Bibliográficos
Autores principales: Ahlborn, Lise B., Dandanell, Mette, Steffensen, Ane Y., Jønson, Lars, Nielsen, Finn C., Hansen, Thomas v. O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2015
Materias:
Preclinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4368840/
https://www.ncbi.nlm.nih.gov/pubmed/25724305
http://dx.doi.org/10.1007/s10549-015-3313-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4368840/
https://www.ncbi.nlm.nih.gov/pubmed/25724305
http://dx.doi.org/10.1007/s10549-015-3313-7

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