Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing
Mandelker D, Zhang L, Kemel Y, Stadler Z, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh M, Li Y, Balakrishnan A, Syed A, Prasad M, Nafa K, Carlo M, Cadoo K, Sheehan M, Fleischut M, Salo-Mullen E, Trottier M, Lipkin S, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila M, Benayed R, Shah R, Yu K, Bajorin D, Coleman J, Leach S, Lowery M, Garcia-Aguilar J, Kantoff P, Sawyers C, Dickler M, Saltz L, Motzer R, O’Reilly E, Scher H, Baselga J, Klimstra D, Solit D, Hyman D, Berger M, Ladanyi M, Robson M, Offit K. Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. JAMA 2017, 318: 825-835. PMID: 28873162, PMCID: PMC5611881, DOI: 10.1001/jama.2017.11137.Peer-Reviewed Original ResearchConceptsGenetic test resultsHigh-penetrance mutationsClinical guidelinesAdvanced cancerGermline testingCancer genetic testingPotential clinical implicationsCancer predisposition genesTumor-normal sequencingAssociated with increased detectionMutation detectionGermline sequencesGuideline-based testingPublished decision rulesCancer screeningFrequency of inherited mutationsGermline findingsPreventive interventionsMain OutcomesMemorial Sloan Kettering Cancer CenterCase-mixStage IV diseasePredisposition genesClinically actionable mutationsFamily history
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