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临床中的药物遗传学应用:种系变异的信息与指南

Pharmacogenetics implementation in the clinics: information and guidelines for germline variants.

作者信息

Olivera Gladys, Sendra Luis, Herrero María José, Berlanga Pablo, Gargallo Pablo, Yáñez Yania, Urtasun Andrea, de Mora Jaime Font, Castel Victoria, Cañete Adela, Aliño Salvador F

机构信息

Pharmacogenetics Platform, Instituto de Investigación Sanitaria la Fe, Valencia 46026, Spain.

Department of Pharmacology, University of Valencia, Valencia 46010, Spain.

出版信息

Cancer Drug Resist. 2019 Mar 19;2(1):53-68. doi: 10.20517/cdr.2018.25. eCollection 2019.

Abstract

The aim of this work was to supply an overview of the germline Pharmacogenetics that can be already implemented in the oncology clinical practice. An explanation of the three pillars considered necessary for determining which genetic polymorphisms should be used has been provided. These are PharmGKB single nucleotide polymorphism (SNP)-Drug Clinical Annotations with levels of evidence 1 or 2; the genetic information provided in the drug labels by the drug regulatory main agencies (Food and Drug Administration and European Medicines Agency, mainly); and the guidelines elaborated by international expert consortia (mainly Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group). A summary of the relevant SNPs and the recommendations on how to apply their results has also been compiled.

摘要

这项工作的目的是概述可在肿瘤临床实践中已实施的种系药物遗传学。已对确定应使用哪些基因多态性所需的三个支柱进行了解释。这些是证据水平为1或2的PharmGKB单核苷酸多态性(SNP)-药物临床注释;主要由药品监管主要机构(食品药品监督管理局和欧洲药品管理局)在药品标签中提供的遗传信息;以及国际专家联盟(主要是临床药物遗传学实施联盟和荷兰药物遗传学工作组)制定的指南。还汇编了相关SNP的摘要以及关于如何应用其结果的建议。

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