title: DNA methylation profiling reveals novel diagnostic biomarkers in renal cell carcinoma.
abstract: BACKGROUND
  Renal cell carcinoma (RCC) is the tenth most commonly diagnosed cancer in the United States. While it is usually lethal when metastatic, RCC is successfully treated with surgery when tumors are confined to the kidney and have low tumor volume. Because most early stage renal tumors do not result in symptoms, there is a strong need for biomarkers that can be used to detect the presence of the cancer as well as to monitor patients during and after therapy.
  
  
  METHODS
  We examined genome-wide DNA methylation alterations in renal cell carcinomas of diverse histologies and benign adjacent kidney tissues from 96 patients.
  
  
  RESULTS
  We observed widespread methylation differences between tumors and benign adjacent tissues, particularly in immune-, G-protein coupled receptor-, and metabolism-related genes. Additionally, we identified a single panel of DNA methylation biomarkers that reliably distinguishes tumor from benign adjacent tissue in all of the most common kidney cancer histologic subtypes, and a second panel does the same specifically for clear cell renal cell carcinoma tumors. This set of biomarkers were validated independently with excellent performance characteristics in more than 1,000 tissues in The Cancer Genome Atlas clear cell, papillary, and chromophobe renal cell carcinoma datasets.
  
  
  CONCLUSIONS
  These DNA methylation profiles provide insights into the etiology of renal cell carcinoma and, most importantly, demonstrate clinically applicable biomarkers for use in early detection of kidney cancer.
authors.affiliation: HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA. blasseigne@hudsonalpha.org.|Department of Biological Sciences, University of Alabama in Huntsville, Shelby Center for Science and Technology, Room 369, 301 Sparkman Drive, Huntsville, Alabama, 35899, USA. blasseigne@hudsonalpha.org.
authors.forename: Brittany N
authors.initials: BN
authors.lastname: Lasseigne
authors.affiliation: HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA. tburwell@hudsonalpha.org.
authors.forename: Todd C
authors.initials: TC
authors.lastname: Burwell
authors.affiliation: Department of Urology, Stanford University, 875 Blake Wilbur Dr. Clinic E, Stanford, California, 94305-5118, USA. mpatil07@gmail.com.
authors.forename: Mohini A
authors.initials: MA
authors.lastname: Patil
authors.affiliation: HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA. dabsher@hudsonalpha.org.
authors.forename: Devin M
authors.initials: DM
authors.lastname: Absher
authors.affiliation: Department of Urology, Stanford University, 875 Blake Wilbur Dr. Clinic E, Stanford, California, 94305-5118, USA. jdbrooks@standord.edu.
authors.forename: James D
authors.initials: JD
authors.lastname: Brooks
authors.affiliation: HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA. rmyers@hudsonalpha.org.
authors.forename: Richard M
authors.initials: RM
authors.lastname: Myers
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D019175:DNA Methylation / Q000235:genetics*; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D011237:Predictive Value of Tests
chemical_list: D014408:Biomarkers, Tumor