Noninvasive Detection and Localization of Genitourinary Cancers Using Urinary Sediment DNA Methylomes and Copy Number Profiles (European Urology)

Current methods for diagnosis and monitoring of genitourinary (GU) cancers are often invasive and/or lack sensitivity and specificity [1-4]. Owing to the profound genomic heterogeneity between tumors, successful application of just a single analyte for cancer detection will probably remain an exception, which raises the question of whether integrated `omics` technologies would be superior for cancer diagnostics. To shed light on this question, we assessed DNA methylomes and copy-number alterations (CNAs) via shallow whole-genome bisulfite sequencing (sWGBS) of urinary sediment from 225 GU cancer patients (60 prostate cancer [PRAD], 100 urothelial cancer [UC], 65 kidney cancer [KIRC]) and 88 healthy individuals (Fig.