4.8 Article

Detection of renal cell carcinoma using plasma and urine cell-free DNA methylomes

Journal

NATURE MEDICINE
Volume 26, Issue 7, Pages 1041-+

Publisher

NATURE RESEARCH
DOI: 10.1038/s41591-020-0933-1

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Funding

  1. Claudia Adams Barr Program for Innovative Cancer Research
  2. DFCI Medical Oncology grant award
  3. H.L. Snyder Medical Research Foundation
  4. British Colombia Children's Hospital Research Institute (BCCHRI) Investigator Grant Award Program
  5. BCCHRI Establishment Award
  6. Provincial Health Services Authority
  7. Children's & Women's Health Centre of BC
  8. BC Children's Hospital Foundation
  9. Canadian Institutes of Health Research (CIHR) Banting Fellowship

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A cell-free DNA-methylation sequencing assay accurately identifies renal cell carcinoma using plasma and urine samples. Improving early cancer detection has the potential to substantially reduce cancer-related mortality. Cell-free methylated DNA immunoprecipitation and high-throughput sequencing (cfMeDIP-seq) is a highly sensitive assay capable of detecting early-stage tumors. We report accurate classification of patients across all stages of renal cell carcinoma (RCC) in plasma (area under the receiver operating characteristic (AUROC) curve of 0.99) and demonstrate the validity of this assay to identify patients with RCC using urine cell-free DNA (cfDNA; AUROC of 0.86).

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