Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

PURPOSE: Germ-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clinical care. We report our experience as a clinical laboratory testing both well-established, high-risk cancer genes (e.g., BRCA1/2, MLH1, MSH2) as well as more recently identified can...

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Detalles Bibliográficos
Autores principales: Susswein, Lisa R., Marshall, Megan L., Nusbaum, Rachel, Vogel Postula, Kristen J., Weissman, Scott M., Yackowski, Lauren, Vaccari, Erica M., Bissonnette, Jeffrey, Booker, Jessica K., Cremona, M. Laura, Gibellini, Federica, Murphy, Patricia D., Pineda-Alvarez, Daniel E., Pollevick, Guido D., Xu, Zhixiong, Richard, Gabi, Bale, Sherri, Klein, Rachel T., Hruska, Kathleen S., Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4985612/
https://www.ncbi.nlm.nih.gov/pubmed/26681312
http://dx.doi.org/10.1038/gim.2015.166

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