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Victoria Pratt • Howard McLeod • Wendy Rubinstein • Laura Dean Brandi Kattman • Adriana Malheiro Medical Genetics Summaries Last Updated: May 1, 2019 National Center for Biotechnology Information (US) Bethesda (MD) National Center for Biotechnology Information (US), Bethesda (MD) All Medical Genetics Summaries content, except where otherwise noted, is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) license which permits copying, distribution, and adaptation of the work, provided the original work is properly cited and any changes from the original work are properly indicated. Any altered, transformed, or adapted form of the work may only be distributed under the same or similar license to this one. Indiana University is sponsoring Medical Genetics Summaries in association with the National Center for Biotechnology Information. Copy Editors: Susan Douglas, Stacy Lathrop Book Cover Image Credit: Aynex Mercado Medical Genetics Summaries staff cannot provide medical advice to individuals, or consultant services. To find a genetics professional in your area, please visit the Genetic Testing Registry homepage and go to the section "Locate a Genetics Professional" to find links to directories of professional societies. NLM Citation: Pratt V, McLeod H, Rubinstein W, et al., editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012-. iii Medical Genetics Summaries is a growing collection of summaries which describe the impact that specific sequence variations have on health. The summaries review genetic variants that underlie inherited conditions, affect the risk of developing a disease in the future, or influence how an individual may respond to a specific drug. iv Medical Genetics Summaries Editors Victoria Pratt, Director, Pharmacogenomics and Molecular Genetics Laboratories, Department of Medical and Molecular Genetics, Indiana University School of Medicine; Bloomington, IN 47405 Howard McLeod, Medical Director, The DeBartolo Family Personalized Medicine Institute, Senior Member, Division of Population Sciences, Moffitt Cancer Center; Tampa, FL 33612 Wendy Rubinstein, Division Director, Clinical Data Management and Curation, CancerLinQ LLC; Alexandria, VA Laura Dean, Senior Medical Writer, Medical Genetics and Human Variation, National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health; Bethesda, MD 20894 Brandi Kattman, Associate Editor, Chief, Medical Genetics and Human Variation, National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health; Bethesda, MD 20894 Adriana Malheiro, Editor-in-chief, Project Lead, Medical Genetics and Human Variation, National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health; Bethesda, MD 20894 v Table of Contents Acknowledgments .................................................................................................................................................... ix Introduction................................................................................................................................................................ 1 Laura Dean Genetic variants and drug responses ................................................................................ 5 Abacavir Therapy and HLA-B*57:01 Genotype........................................................................................... 7 Laura Dean Allopurinol Therapy and HLA-B*58:01 Genotype ....................................................................................... 19 Laura Dean Amitriptyline Therapy and CYP2D6 and CYP2C19 Genotype.................................................................. 29 Laura Dean Aripiprazole Therapy and CYP2D6 Genotype ............................................................................................. 51 Laura Dean Atomoxetine Therapy and CYP2D6 Genotype.............................................................................................. 61 Laura Dean Azathioprine Therapy and TPMT Genotype .................................................................................................. 71 Laura Dean Brivaracetam Therapy and CYP2C19 Genotype.......................................................................................... 81 Laura Dean Capecitabine Therapy and DPYD Genotype ................................................................................................. 91 Laura Dean Carbamazepine Therapy and HLA Genotype............................................................................................... 101 Laura Dean Carisoprodol Therapy and CYP2C19 Genotype.......................................................................................... 129 Laura Dean Carvedilol Therapy and CYP2D6 Genotype.................................................................................................. 135 Laura Dean Celecoxib Therapy and CYP2C9 Genotype................................................................................................... 143 Laura Dean Clopidogrel Therapy and CYP2C19 Genotype............................................................................................. 149 Laura Dean Clozapine Therapy and CYP2D6, CYP1A2, and CYP3A4 Genotypes ................................................... 167 Laura Dean Codeine Therapy and CYP2D6 Genotype ..................................................................................................... 179 Laura Dean Dabrafenib Therapy and BRAF and G6PD Genotype................................................................................. 193 Laura Dean vi Medical Genetics Summaries Deutetrabenazine Therapy and CYP2D6 Genotype .................................................................................... 203 Laura Dean Diazepam Therapy and CYP2C19 Genotype ............................................................................................... 217 Laura Dean Esomeprazole Therapy and CYP2C19 Genotype ........................................................................................ 225 Laura Dean Fluorouracil Therapy and DPYD Genotype.................................................................................................... 235 Laura Dean Flurbiprofen Therapy and CYP2C9 Genotype .............................................................................................. 245 Laura Dean Gentamicin Therapy and MT-RNR1 Genotype.............................................................................................. 253 Laura Dean Imipramine Therapy and CYP2D6 and CYP2C19 Genotype .................................................................... 261 Laura Dean Irinotecan Therapy and UGT1A1 Genotype.................................................................................................. 281 Laura Dean Lacosamide Therapy and CYP2C19 Genotype............................................................................................. 297 Laura Dean Lesinurad Therapy and CYP2C9 Genotype ................................................................................................... 303 Laura Dean Maraviroc Therapy and CCR5 Genotype....................................................................................................... 313 Laura Dean Mercaptopurine Therapy and TPMT Genotype............................................................................................. 319 Laura Dean Metoprolol Therapy and CYP2D6 Genotype................................................................................................. 329 Laura Dean Omeprazole Therapy and CYP2C19 Genotype........................................................................................... 339 Laura Dean Pertuzumab Therapy and ERBB2 (HER2) Genotype..................................................................................... 349 Laura Dean Phenytoin Therapy and HLA-B*15:02 and CYP2C9 Genotypes............................................................... 359 Laura Dean Piroxicam Therapy and CYP2C9 Genotype................................................................................................... 373 Laura Dean Prasugrel Therapy and CYP Genotype............................................................................................................ 381 Laura Dean Propafenone Therapy and CYP2D6 Genotype ............................................................................................. 389 Laura Dean Contents vii Risperidone Therapy and CYP2D6 Genotype ............................................................................................... 399 Laura Dean Simeprevir Therapy and IFNL3 Genotype...................................................................................................... 411 Laura Dean Sofosbuvir Therapy and IFNL4 Genotype ...................................................................................................... 419 Laura Dean Tamoxifen Therapy and CYP2D6 Genotype .................................................................................................. 427 Laura Dean Thioguanine Therapy and TPMT Genotype.................................................................................................... 449 Laura Dean Thioridazine Therapy and CYP2D6 Genotypes............................................................................................ 459 Laura Dean Tramadol Therapy and CYP2D6 Genotype...................................................................................................
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