Korean J Urol Oncol.  2019 Dec;17(3):125-135. 10.22465/kjuo.2019.17.3.125.

Comprehensive Molecular Characterization of Urological Malignancies: Literature Review of Landmark Studies

Affiliations
  • 1Department of Urology, Seoul National University College of Medicine, Seoul, Korea. drboss@snu.ac.kr
  • 2Department of Urology, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul, Korea.
  • 3Department of Urology, Seoul National University Hospital, Seoul, Korea.

Abstract

Owing to recent advancements in next-generation sequencing and bioinformatics, genetic data of urological malignancies exponentially studied and published. Application of precision medicine strategies for cancer diagnosis, management is just around the corner, and we need to prepare for this paradigm change. For this reason, we performed the literature reviews of 13 landmark studies for urological malignancies, 5 for prostate cancer, 5 for renal cell carcinoma, and 3 for urothelial carcinoma. Furthermore, we reviewed potentially druggable genes for urological malignancies that have in vivo/in vitro evidence. Finally, we selected total 255 genes included important mutations, structural variations, copy number alterations, clinically informative genes and potential drug target genes for prostate cancer, renal cell carcinoma, and urothelial carcinoma. This literature review and comprehensive molecular characterization of urological malignancies make help to understanding genetic backgrounds of the disease. However, there was less than 5% of Asian data included in current landmark studies for urological malignancies; thus we need to build up the large-scaled genetic studies for Korean population.

Keyword

High-throughput nucleotide sequencing; Prostatic neoplasms; Renal cell carcinoma; Transitional cell; Genetic association studies

MeSH Terms

Asian Continental Ancestry Group
Carcinoma, Renal Cell
Computational Biology
Diagnosis
Genetic Association Studies
Genetic Background
High-Throughput Nucleotide Sequencing
Humans
Precision Medicine
Prostatic Neoplasms
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