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10 p, 806.8 KB Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing / Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Digiovanni, Laura (University of Pennsylvania, Philadelphia, PA) ; Gaddam, Pragna (Memorial Sloan Kettering Cancer Center) ; Walsh, Michael F. (Memorial Sloan Kettering Cancer Center) ; Joseph, Vijai (Memorial Sloan Kettering Cancer Center) ; Stadler, Zsofia K. (Memorial Sloan Kettering Cancer Center) ; Nathanson, Katherine L. (University of Pennsylvania, Philadelphia, PA) ; Garber, Judy E. (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ; Couch, Fergus J. (Mayo Clinic, Rochester, MN) ; Offit, Kenneth (Memorial Sloan Kettering Cancer Center) ; Robson, Mark E. (Memorial Sloan Kettering Cancer Center) ; Domchek, Susan M. (University of Pennsylvania, Philadelphia, PA) ; Universitat Autònoma de Barcelona
Massively parallel sequencing allows simultaneous testing of multiple genes associated with cancer susceptibility. Guidelines are available for variant classification; however, interpretation of these guidelines by laboratories and providers may differ and lead to conflicting reporting and, potentially, to inappropriate medical management. [...]
2016 - 10.1200/JCO.2016.68.4316
Journal of Clinical Oncology, Vol. 34 (september 2016) , p. 4071-4078  

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1 Robson, M.
1 Robson, M. E.
5 Robson, Mark
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