@article{34f5b4517f8c4ac7aefb813ef1b27afb,
title = "Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy",
abstract = "Current 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.",
author = "Springer, {Simeon U.} and Chen, {Chung Hsin} and {Del Carmen Rodriguez Pena}, Maria and Lu Li and Christopher Douville and Yuxuan Wang and Cohen, {Joshua David} and Diana Taheri and Natalie Silliman and Joy Schaefer and Janine Ptak and Lisa Dobbyn and Maria Papoli and Isaac Kinde and Bahman Afsari and Tregnago, {Aline C.} and Bezerra, {Stephania M.} and Christopher Vandenbussche and Kazutoshi Fujita and Dilek Ertoy and Cunha, {Isabela W.} and Lijia Yu and Bivalacqua, {Trinity J.} and Grollman, {Arthur P.} and Diaz, {Luis A.} and Rachel Karchin and Ludmila Danilova and Huang, {Chao Yuan} and Shun, {Chia Tung} and Turesky, {Robert J.} and Yun, {Byeong Hwa} and Rosenquist, {Thomas A.} and Pu, {Yeong Shiau} and Hruban, {Ralph H.} and Cristian Tomasetti and Nickolas Papadopoulos and Kinzler, {Ken W.} and Bert Vogelstein and Dickman, {Kathleen G.} and Netto, {Georges J}",
note = "Funding Information: This research was supported by grants from the National Science Council, Taiwan to CHC (104– 2314-B-002–132) and to YSP (104–2314-B-002–121-MY3). We appreciate the clinical services provided by Dr. Kuo-How Huang, Shuo-Meng Wang, Huai-Ching Tai and Yuan-Ju Lee (Department of Urology, National Taiwan University Hospital). We are grateful for the generous support provided by Henry and Marsha Laufer, the Virginia and DK Ludwig Fund for Cancer Research, the Commonwealth Foundation, the John Templeton Foundation, and the Conrad R Hilton Foundation. All sequencing was performed at the Sol Goldman Sequencing Facility at Johns Hopkins. This work was also supported by grants from the NIH (Grants CA-77598, CA 06973, GM 07309, and ES019564). The authors appreciate the medical illustrations skillfully designed by Kathleen Gebhart (Media Services, Stony Brook University). The authors appreciate the help in editing by Janice Nigro. National Science Council 104-2314-B-002-132 Chung-Hsin Chen Yeong-Shiau Pu National Science Council 104-2314-B-002-121-MY3 Chung-Hsin Chen Yeong-Shiau Pu National Institutes of Health Yuxuan Wang Arthur P Grollman Ken W Kinzler Henry and Marsha Laufer Arthur P Grollman John Templeton Foundation Cristian Tomasetti Conrad N. Hilton Foundation Nickolas Papadopoulos Ludwig Institute for Cancer Research Ken W Kinzler Bert Vogelstein Sol Goldman Pancreatic Research Foundation Bert Vogelstein The funders had no role in study design, data collection and interpretation, or the decision to submit the work for publication. Funding Information: This research was supported by grants from the National Science Council, Taiwan to CHC (104– 2314-B-002–132) and to YSP (104–2314-B-002–121-MY3). We appreciate the clinical services provided by Dr. Kuo-How Huang, Shuo-Meng Wang, Huai-Ching Tai and Yuan-Ju Lee (Department of Urology, National Taiwan University Hospital). We are grateful for the generous support provided by Henry and Marsha Laufer, the Virginia and DK Ludwig Fund for Cancer Research, the Commonwealth Foundation, the John Templeton Foundation, and the Conrad R Hilton Foundation. All sequencing was performed at the Sol Goldman Sequencing Facility at Johns Hopkins. This work was also supported by grants from the NIH (Grants CA-77598, CA 06973, GM 07309, and ES019564). The authors appreciate the medical illustrations skillfully designed by Kathleen Gebhart (Media Services, Stony Brook University). The authors appreciate the help in editing by Janice Nigro. Publisher Copyright: {\textcopyright} Springer et al.",
year = "2018",
month = mar,
day = "20",
doi = "10.7554/eLife.32143",
language = "English (US)",
volume = "7",
journal = "eLife",
issn = "2050-084X",
publisher = "eLife Sciences Publications",
}