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放射基因组学:寻找放疗反应的基因预测指标。

Radiogenomics: the search for genetic predictors of radiotherapy response.

作者信息

Kerns Sarah L, West Catharine M L, Andreassen C Nicolaj, Barnett Gillian C, Bentzen Søren M, Burnet Neil G, Dekker Andre, De Ruysscher Dirk, Dunning Alison, Parliament Matthew, Talbot Chris, Vega Ana, Rosenstein Barry S

机构信息

Department of Radiation Oncology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

出版信息

Future Oncol. 2014 Dec;10(15):2391-406. doi: 10.2217/fon.14.173.

DOI:10.2217/fon.14.173
PMID:25525847
Abstract

'Radiogenomics' is the study of genetic variation associated with response to radiotherapy. Radiogenomics aims to uncover the genes and biologic pathways responsible for radiotherapy toxicity that could be targeted with radioprotective agents and; identify genetic markers that can be used in risk prediction models in the clinic. The long-term goal of the field is to develop single nucleotide polymorphism-based risk models that can be used to stratify patients to more precisely tailored radiotherapy protocols. The field has evolved over the last two decades in parallel with advances in genomics, moving from narrowly focused candidate gene studies to large, collaborative genome-wide association studies. Several confirmed genetic variants have been identified and the field is making progress toward clinical translation.

摘要

“放射基因组学”是对与放疗反应相关的基因变异的研究。放射基因组学旨在揭示那些可成为放射防护剂作用靶点的、导致放疗毒性的基因和生物学途径;并识别可用于临床风险预测模型的基因标志物。该领域的长期目标是开发基于单核苷酸多态性的风险模型,用于对患者进行分层,以便更精确地制定放疗方案。在过去二十年中,随着基因组学的发展,该领域也不断演进,从专注于候选基因的研究发展到大规模的、合作性的全基因组关联研究。已经鉴定出了一些得到确认的基因变异,并且该领域在临床转化方面正在取得进展。

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