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

作     者：Gladys Olivera Luis Sendra María JoséHerrero Pablo Berlanga Pablo Gargallo Yania Yáñez Andrea Urtasun Jaime Font de Mora Victoria Castel Adela Cañete Salvador FAliño 

作者机构：Pharmacogenetics PlatformInstituto de Investigación Sanitaria la FeValencia 46026Spain Department of PharmacologyUniversity of ValenciaValencia 46010Spain Department of Pediatric and Adolescent oncologyInstitute Gustave Roussy CenterVillejuif 94800France Pediatric Oncology UnitHospital Universitario y Politécnico la FeValencia 46026Spain Pediatric Clinical and Translational Research in CancerInstituto de Investigación Sanitaria la FeValencia 46026Spain 

出 版 物：《Cancer Drug Resistance》 (癌症耐药（英文）)

年 卷 期：2019年第2卷第1期

页      面：53-68页

学科分类：1007[医学-药学(可授医学、理学学位)] 1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

基　　金：National Institutes of Health, NIH National Institute of General Medical Sciences, NIGMS Stanford University, SU Fundación Mutua Madrileña Asociación Pablo Ugarte, APU 

主　　题：Polymorphisms Pharmacogenetic PharmGKB guidelines oncology clinical implementation 

摘      要：The aim of this work was to supply an overview of the germline Pharmacogenetics that can be already implemented in the oncology clinical *** explanation of the three pillars considered necessary for determining which genetic polymorphisms should be used has been *** 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.