Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling

Accurate estimation of cancer risk in HBOC families often requires BRCA1/2 testing, but this may be impossible in deceased family members. Previous, testing archival formalin-fixed, paraffin-embedded (FFPE) tissue for germline BRCA1/2 variants was unsuccessful, except for the Jewish founder mutation...

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Detalles Bibliográficos
Autores principales: Petersen, Annabeth Høgh, Aagaard, Mads Malik, Nielsen, Henriette Roed, Steffensen, Karina Dahl, Waldstrøm, Marianne, Bojesen, Anders
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970683/
https://www.ncbi.nlm.nih.gov/pubmed/26733283
http://dx.doi.org/10.1038/ejhg.2015.268

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970683/
https://www.ncbi.nlm.nih.gov/pubmed/26733283
http://dx.doi.org/10.1038/ejhg.2015.268

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