2021
Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome
Samadder N, Riegert-Johnson D, Boardman L, Rhodes D, Wick M, Okuno S, Kunze K, Golafshar M, Uson P, Mountjoy L, Ertz-Archambault N, Patel N, Rodriguez E, Lizaola-Mayo B, Lehrer M, Thorpe C, Yu N, Esplin E, Nussbaum R, Sharp R, Azevedo C, Klint M, Hager M, Macklin-Mantia S, Bryce A, Bekaii-Saab T, Sekulic A, Stewart A. Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome. JAMA Oncology 2021, 7: 230-237. PMID: 33126242, PMCID: PMC7600058, DOI: 10.1001/jamaoncol.2020.6252.Peer-Reviewed Original ResearchConceptsPrevalence of pathogenic germline variantsFamily variant testingPathogenic germline variantsSolid tumor cancersHigh-penetrance cancer susceptibility genesFamily history of cancerMayo Clinic Cancer CenterRisk-reducing interventionsUniversal genetic testingMultigene panel testingHigh-penetrance variantsHistory of cancerClinic Cancer CenterUniversal testing approachGermline variantsGuideline-directed approachYounger age of diagnosisTumor cancersCancer susceptibility genesClinically actionable findingsTargeted testingCancer screeningAge of diagnosisGermline testingVariant testing
2018
Real-Time Genomic Characterization of Metastatic Pancreatic Neuroendocrine Tumors Has Prognostic Implications and Identifies Potential Germline Actionability.
Raj N, Shah R, Stadler Z, Mukherjee S, Chou J, Untch B, Li J, Kelly V, Saltz L, Mandelker D, Ladanyi M, Berger M, Klimstra D, Reidy-Lagunes D, Osoba M. Real-Time Genomic Characterization of Metastatic Pancreatic Neuroendocrine Tumors Has Prognostic Implications and Identifies Potential Germline Actionability. JCO Precision Oncology 2018, 2018: 1-18. PMID: 30687805, PMCID: PMC6345401, DOI: 10.1200/po.17.00267.Peer-Reviewed Original ResearchMemorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer TargetsNext-generation sequencingPancreatic neuroendocrine tumorsGermline genetic analysisLoss of heterozygosityMetastatic PanNETsNeuroendocrine tumorsHigh-penetrance cancer susceptibility genesPresence of loss of heterozygosityAdvanced pancreatic neuroendocrine tumorsMetastatic pancreatic neuroendocrine tumorsGenetic analysisSomatic loss of heterozygosityInferior overall survivalCancer susceptibility genesIncreasing tumor gradeTarget of rapamycin pathway genesRoutine clinical practice settingClonal evolution patternsMammalian target of rapamycin pathway genesChromatin remodeling factorsReal-time molecular profilingFrequent somatic mutationsClinical practice settingSequence of pre-
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