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주요 비뇨기계 종양에 대한 대규모 유전체 연구 리뷰

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

대한비뇨기종양학회지 2019년 17권 3호 p.125 ~ 135
서준교 ( Suh Jun-Gyo ) - 서울대학교 의과대학 비뇨기과학교실

정창욱 ( Jeong Chang-Wook ) - 서울대학교 의과대학 비뇨기과학교실

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 vivolin 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.

키워드

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