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遗传标记物——前列腺癌研究的全景图

Genetic markers a landscape in prostate cancer.

机构信息

Urology Department, University Hospital Virgen de las Nieves, Av. de las Fuerzas Armadas 2, 18014 Granada, Spain.

GENYO, Centre for Genomics and Oncological Research: Pfizer/University of Granada/Andalusian Regional Government, Av. de la Ilustración 114, 18016 Granada, Spain.

出版信息

Mutat Res Rev Mutat Res. 2018 Jan-Mar;775:1-10. doi: 10.1016/j.mrrev.2017.11.004. Epub 2017 Nov 29.

Abstract

Prostate cancer (PC) is one of the most common cancers worldwide. The observed variability in progression and responses to the same treatment between patients underlie the genetic heterogeneity of the disease. Nowadays, screening and follow-up biomarkers in PC are still having a deep lack of information, which makes difficult the cancer diagnosis, prognosis and the selection of the most suitable therapies. This is making that currently unnecessary biopsies, over-treatments and hormonoresistances have high rates of prevalence among patients. New biomarkers are urgently needed and in this sense genomic biomarkers could be the most suitable tools. These genetic markers will be helpful for improving the precision of prognostic and the predictive current tools which are employed in the clinical practice. A recent literature search up was conducted, including clinical trials and pre-clinical basic research studies. Keywords included germline variants, prostate cancer, biomarkers, androgen deprivation therapy, screening and liquid biopsy; among others. We have reviewed how germline variants, CNVs and repetitive regions are relevant to prostate carcinogenesis, treatment and progression. Moreover, we have also considered novel biomarkers for PC prognosis based on differentially expressed genes. Finally, we have included new strategies in recent markers of liquid biopsy or updated technologies for minimal samples analysis. The improvement of genetic markers use and their application to the clinical practice, will enhance the variability of simple, non-invasive, tools such as liquid biopsy and germline variants, these will reduce the number of PC needle biopsies and current over-treatments that are usual in the management of this cancer.

摘要

前列腺癌(PC)是全球最常见的癌症之一。患者之间对同一治疗的反应和进展存在明显差异,这表明该疾病存在遗传异质性。目前,PC 的筛查和随访生物标志物仍然缺乏信息,这使得癌症诊断、预后和选择最合适的治疗方法变得困难。这导致目前患者中存在不必要的活检、过度治疗和激素抵抗的高发病率。迫切需要新的生物标志物,在这方面,基因组生物标志物可能是最合适的工具。这些遗传标记将有助于提高当前用于临床实践的预后和预测工具的准确性。最近进行了一次文献检索,包括临床试验和临床前基础研究。关键词包括种系变异、前列腺癌、生物标志物、雄激素剥夺疗法、筛查和液体活检等。我们回顾了种系变异、CNV 和重复区域如何与前列腺癌的发生、治疗和进展相关。此外,我们还考虑了基于差异表达基因的 PC 预后的新型生物标志物。最后,我们包括了液体活检或最小样本分析更新技术的新的标记物的最新策略。遗传标志物的使用和将其应用于临床实践的改进,将提高液体活检和种系变异等简单、非侵入性工具的变异性,这将减少 PC 针吸活检的数量和目前这种癌症管理中常见的过度治疗。

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