Article
Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy.
eLife - 20 Mar 2018
Springer Simeon U, Chen Chung-Hsin, Rodriguez Pena Maria Del Carmen, Li Lu, Douville Christopher, Wang Yuxuan, Cohen Joshua David, Taheri Diana, Silliman Natalie, Schaefer Joy, Ptak Janine, Dobbyn Lisa, Papoli Maria, Kinde Isaac, Afsari Bahman, Tregnago Aline C, Bezerra Stephania M, VandenBussche Christopher, Fujita Kazutoshi, Ertoy Dilek, Cunha Isabela W, Yu Lijia, Bivalacqua Trinity J, Grollman Arthur P, Diaz Luis A, Karchin Rachel, Danilova Ludmila, Huang Chao-Yuan, Shun Chia-Tung, Turesky Robert J, Yun Byeong Hwa, Rosenquist Thomas A, Pu Yeong-Shiau, Hruban Ralph H, Tomasetti Cristian, Papadopoulos Nickolas, Kinzler Ken W, Vogelstein Bert, Dickman Kathleen G, Netto George J
Abstract excerpt
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....
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