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迈向使用个性化风险评估进行精准医疗决策:实体瘤基因组分类器的系统综述

Towards decision-making using individualized risk estimates for personalized medicine: A systematic review of genomic classifiers of solid tumors.

作者信息

Trifiletti Daniel M, Sturz Vanessa N, Showalter Timothy N, Lobo Jennifer M

机构信息

Department of Radiation Oncology, University of Virginia School of Medicine, Charlottesville, VA, United States of America.

Department of Public Health Sciences, University of Virginia School of Medicine, Charlottesville, VA, United States of America.

出版信息

PLoS One. 2017 May 9;12(5):e0176388. doi: 10.1371/journal.pone.0176388. eCollection 2017.

DOI:10.1371/journal.pone.0176388
PMID:28486497
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5423583/
Abstract

Recent advances in the understanding of the genetic underpinnings of cancer offer the promise to customize cancer treatments to the individual through the use of genomic classifiers (GCs). At present, routine clinical utilization of GCs is uncommon and their current scope and status, in a broad sense, are unknown. As part of a registered review (PROSPERO 2014:CRD42014013371), we systematically reviewed the literature evaluating the utility of commercially available GCs by searching Ovid Medline (PubMed), EMBASE, the Cochrane Database of Systematic Reviews, and CINAHL on September 2, 2014. We excluded articles involving pediatric malignancies, non-solid or non-invasive cancers, hereditary risk of cancer, non-validated GCs, and GCs involving fewer than 3 biomarkers. A total of 3,625 studies were screened, but only 37 met the pre-specified inclusion criteria. Of these, 15 studies evaluated outcomes and clinical utility of GCs through clinical trials, and the remainder through the use of mathematical models. Most studies (29 of 37) were specific to hormone-receptor positive breast cancer, whereas only 4 studies evaluated GCs in non-breast cancer (prostate, colon, and lung cancers). GCs have spurred excitement across disciplines in recent decades. While there are several GCs that have been validated, the general quality of the data are weak. Further research, including prospective validation is needed, particularly in the non-breast cancer GCs.

摘要

近年来,在对癌症遗传基础的理解方面取得的进展为通过使用基因组分类器(GCs)实现癌症治疗的个体化提供了希望。目前,GCs在临床常规应用中并不常见,从广义上讲,其当前的范围和状况尚不清楚。作为一项注册综述(PROSPERO 2014:CRD42014013371)的一部分,我们于2014年9月2日通过检索Ovid Medline(PubMed)、EMBASE、Cochrane系统评价数据库和CINAHL,系统地回顾了评估市售GCs效用的文献。我们排除了涉及儿童恶性肿瘤、非实体或非侵袭性癌症、癌症遗传风险、未经验证的GCs以及涉及少于3种生物标志物的GCs的文章。总共筛选了3625项研究,但只有37项符合预先设定的纳入标准。其中,15项研究通过临床试验评估了GCs的结果和临床效用,其余研究则通过使用数学模型进行评估。大多数研究(37项中的29项)特定于激素受体阳性乳腺癌,而只有4项研究评估了非乳腺癌(前列腺癌、结肠癌和肺癌)中的GCs。近几十年来,GCs在各学科中引发了热潮。虽然有几种GCs已经得到验证,但数据的总体质量较弱。需要进一步的研究,包括前瞻性验证,特别是在非乳腺癌GCs方面。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c13c/5423583/06d095f575e2/pone.0176388.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c13c/5423583/8c194d0afea8/pone.0176388.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c13c/5423583/06d095f575e2/pone.0176388.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c13c/5423583/8c194d0afea8/pone.0176388.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c13c/5423583/06d095f575e2/pone.0176388.g002.jpg

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