A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection

BACKGROUND: In the context of our Regional Program of Hereditary Cancer, individuals fulfilling the criteria are tested for germline mutations to subsequently establish the clinical management. Our standard diagnostic approach focuses on sequencing a few classic high-risk genes, a method that freque...

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Detalles Bibliográficos
Autores principales: Velázquez, Carolina, Lastra, Enrique, Avila Cobos, Francisco, Abella, Luis, de la Cruz, Virginia, Hernando, Blanca Ascensión, Hernández, Lara, Martínez, Noemí, Infante, Mar, Durán, Mercedes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288470/
https://www.ncbi.nlm.nih.gov/pubmed/32522261
http://dx.doi.org/10.1186/s12967-020-02391-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288470/
https://www.ncbi.nlm.nih.gov/pubmed/32522261
http://dx.doi.org/10.1186/s12967-020-02391-z

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