Springer S.U.CHUNG-HSIN CHENDel Carmen Rodriguez Pena M.Li L.Douville C.Wang Y.Cohen J.D.Taheri D.Silliman N.Schaefer J.Ptak J.Dobbyn L.Papoli M.Kinde I.Afsari B.Tregnago A.C.Bezerra S.M.Vandenbussche C.Fujita K.Ertoy D.Cunha I.W.Yu L.Bivalacqua T.J.Grollman A.P.Diaz L.A.Karchin R.Danilova L.CHAO-YUAN HUANGCHIA-TUNG SHUNTuresky R.J.Yun B.H.Rosenquist T.A.YEONG-SHIAU PUHruban R.H.Tomasetti C.Papadopoulos N.Kinzler K.W.Vogelstein B.Dickman K.G.Netto G.J.2021-01-262021-01-2620182050-084Xhttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85045673878&doi=10.7554%2feLife.32143&partnerID=40&md5=6dea7417ae234f3723a2b45ac329f528https://scholars.lib.ntu.edu.tw/handle/123456789/542071Current non-invasive approaches for detection of urothelial cancers are suboptimal. We developed a test to detect urothelial neoplasms using DNA recovered from cells shed into urine. UroSEEK incorporates massive parallel sequencing assays for mutations in 11 genes and copy number changes on 39 chromosome arms. In 570 patients at risk for bladder cancer (BC), UroSEEK was positive in 83% of those who developed BC. Combined with cytology, UroSEEK detected 95% of patients who developed BC. Of 56 patients with upper tract urothelial cancer, 75% tested positive by UroSEEK, including 79% of those with non-invasive tumors. UroSEEK detected genetic abnormalities in 68% of urines obtained from BC patients under surveillance who demonstrated clinical evidence of recurrence. The advantages of UroSEEK over cytology were evident in low-grade BCs; UroSEEK detected 67% of cases whereas cytology detected none. These results establish the foundation for a new non-invasive approach for detection of urothelial cancer. ? Springer et al.[SDGs]SDG3biological marker; fibroblast growth factor receptor 3; telomerase; TERT protein, human; adult; aneuploidy; Article; cancer diagnosis; cell heterogeneity; chronic kidney failure; cohort analysis; controlled study; DNA adduct; DNA purification; electrospray mass spectrometry; female; gene mutation; hematuria; human; lower urinary tract symptom; major clinical study; male; middle aged; non invasive measurement; polymerase chain reaction; primary tumor; single nucleotide polymorphism; transitional cell carcinoma; ultra performance liquid chromatography; urinalysis; adolescent; aged; bladder tumor; child; early cancer diagnosis; genetic screening; genetics; mutation; preschool child; procedures; sensitivity and specificity; transitional cell carcinoma; urine; very elderly; young adult; Adolescent; Adult; Aged; Aged, 80 and over; Aneuploidy; Carcinoma, Transitional Cell; Child; Child, Preschool; Early Detection of Cancer; Female; Genetic Testing; Humans; Male; Middle Aged; Mutation; Sensitivity and Specificity; Telomerase; Urinary Bladder Neoplasms; Young Adultjournal article10.7554/eLife.32143295577782-s2.0-85045673878