Clinically significant germline pathogenic variants are missed by tumor genomic sequencing

A germline pathogenic variant may be present even if the results of tumor genomic sequencing do not suggest one. There are key differences in the assay design and reporting of variants between germline and somatic laboratories. When appropriate, both tests should be completed to aid in therapy decis...

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Detalles Bibliográficos
Autores principales: Stout, Leigh Anne, Hunter, Cynthia, Schroeder, Courtney, Kassem, Nawal, Schneider, Bryan P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10575977/
https://www.ncbi.nlm.nih.gov/pubmed/37833309
http://dx.doi.org/10.1038/s41525-023-00374-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10575977/
https://www.ncbi.nlm.nih.gov/pubmed/37833309
http://dx.doi.org/10.1038/s41525-023-00374-9

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