Genomics and epigenomics of clear cell renal cell carcinoma: recent developments and potential applications

Cancer Lett. 2013 Dec 1;341(2):111-26. doi: 10.1016/j.canlet.2013.08.006. Epub 2013 Aug 7.


Majority of clear cell renal cell carcinomas (ccRCCs) are diagnosed in the advanced metastatic stage resulting in dramatic decrease of patient survival. Thereby, early detection and monitoring of the disease may improve prognosis and treatment results. Recent technological advances enable the identification of genetic events associated with ccRCC and reveal significant molecular heterogeneity of ccRCC tumors. This review summarizes recent findings in ccRCC genomics and epigenomics derived from chromosomal aberrations, DNA sequencing and methylation, mRNA, miRNA expression profiling experiments. We provide a molecular insight into ccRCC pathology and recapitulate possible clinical applications of genomic alterations as predictive and prognostic biomarkers.

Keywords: Chromosomal aberrations; Clear cell renal cell carcinoma; DNA methylation; Gene expression; Large-scale sequencing; miRNA.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Carcinoma, Renal Cell / diagnosis
  • Carcinoma, Renal Cell / genetics*
  • Early Diagnosis
  • Epigenomics / methods*
  • Gene Expression Profiling / methods
  • Gene Expression Regulation, Neoplastic
  • Genomics / methods*
  • Humans
  • Kidney Neoplasms / diagnosis
  • Kidney Neoplasms / genetics*
  • Prognosis
  • Sensitivity and Specificity