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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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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4985612/
https://ncbi.nlm.nih.gov/pubmed/26681312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.166
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