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