Centre for Research on Prostatic Diseases (CeRePP), Paris, France.
GRC 5 Predictive Onco-Urology, Sorbonne University, Paris, France.
Curr Opin Urol. 2023 Nov 1;33(6):414-420. doi: 10.1097/MOU.0000000000001126. Epub 2023 Aug 29.
Urologic cancers result from the appearance of genomic alterations in the target organ due to the combination of genetic and environmental factors. Knowledge of the genomic markers involved in their etiology and mechanisms for their development continue to progress. This reviewed provides an update on recent genomic studies that have informed epidemiologic and clinical research in urology.
Inherited variations are an established risk factor for urologic cancers with significant estimates of heritability for prostate, kidney, and bladder cancer. The roles of both rare germline variants, identified from family-based studies, and common variants, identified from genome-wide association studies, have provided important information about the genetic architecture for urologic cancers. Large-scale analyses of tumors have generated genomic, epigenomic, transcriptomic, and proteomic data that have also provided novel insights into etiology and mechanisms. These tumors characteristics, along with the associated tumor microenvironment, have attempted to provide more accurate risk stratification, prognosis of disease and therapeutic management.
Genomic studies of inherited and acquired variation are changing the landscape of our understanding of the causes of urologic cancers and providing important translational insights for their management. Their use in epidemiologic and clinical studies is thus essential.
泌尿系统癌症是由于遗传和环境因素的共同作用，导致靶器官出现基因组改变而产生的。参与其发病机制的基因组标记物的知识不断发展。本文综述了最近的基因组研究进展，这些研究为泌尿外科的流行病学和临床研究提供了信息。
遗传变异是泌尿系统癌症的一个既定危险因素，前列腺癌、肾癌和膀胱癌的遗传度有显著估计。从基于家族的研究中确定的罕见种系变异和从全基因组关联研究中确定的常见变异的作用，为泌尿系统癌症的遗传结构提供了重要信息。对肿瘤的大规模分析产生了基因组、表观基因组、转录组和蛋白质组数据，这些数据也为病因和发病机制提供了新的见解。这些肿瘤特征，以及相关的肿瘤微环境，试图提供更准确的风险分层、疾病预后和治疗管理。
遗传和获得性变异的基因组研究正在改变我们对泌尿系统癌症病因的理解，并为其治疗提供了重要的转化见解。因此，它们在流行病学和临床研究中的应用是必不可少的。
