Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

BRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based on segregation data and the finding of a healthy homozygous carrier, we class...

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Detalles Bibliográficos
Autores principales: Byrjalsen, Anna, Steffensen, Ane Y., Hansen, Thomas v. O., Wadt, Karin, Gerdes, Anne‐Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458035/
https://www.ncbi.nlm.nih.gov/pubmed/28588830
http://dx.doi.org/10.1002/ccr3.944

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458035/
https://www.ncbi.nlm.nih.gov/pubmed/28588830
http://dx.doi.org/10.1002/ccr3.944

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