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Germline prognostic markers for urinary bladder cancer: Obstacles and opportunities

机译:膀胱癌的生殖细胞预后标志物:障碍和机遇

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摘要

Urinary bladder cancer is a heterogeneous disease with diverse genetic and environmental risk factors that can influence disease risk or clinical course for recurrence, progression, and survival. Therefore, identification of these factors is paramount for disease prevention and optimal clinical management of bladder cancer patients. Of particular interest is the need to identify molecular biomarkers that can give accurate assessment of tumor biological potential and to predict treatment response. Recent advances in molecular biology, cytogenetic, and genomic research have spurred discovery efforts for novel genetic, epigenetic, and proteomic biomarkers that are prognostic for cancer. This review focuses on some of the important germ line polymorphisms found to be correlated with clinical outcomes in bladder cancer. So far, most of the identified candidate loci were based on prior knowledge of pathogenesis and had not been validated for clinical applications. The future challenges are to analyze the wealth of information from whole-genome studies, to understand the underlying biological mechanisms of these associations, the network of gene-gene and gene-environment interactions, and to apply these markers for the identification of high-risk population for targeted, personalized therapy.
机译:膀胱癌是一种异质性疾病,具有多种遗传和环境风险因素,会影响疾病风险或复发,进展和生存的临床过程。因此,识别这些因素对于膀胱癌患者的疾病预防和最佳临床管理至关重要。特别令人感兴趣的是需要鉴定可以对肿瘤生物学潜力进行准确评估并预测治疗反应的分子生物标志物。分子生物学,细胞遗传学和基因组研究的最新进展刺激了发现新的遗传,表观遗传和蛋白质组生物标志物的发现,这些标志物可预测癌症。这篇综述着重于一些重要的种系多态性,发现它们与膀胱癌的临床结果相关。到目前为止,大多数已确定的候选基因座均基于发病机理的先验知识,尚未经过临床验证。未来的挑战是分析来自全基因组研究的大量信息,了解这些关联的潜在生物学机制,基因-基因和基因-环境相互作用的网络,以及将这些标记物用于识别高危人群。人群进行有针对性的个性化治疗。

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