Medical Genetics Summaries [Internet]
- PMID: 28520340
- Bookshelf ID: NBK61999
Medical Genetics Summaries [Internet]
Excerpt
Medical Genetics Summaries (MGS) is an international point-of-care resource for clinicians. It describes the impact that specific DNA sequence variations have on health. The chapters in MGS form a growing collection of peer-reviewed articles that synthesize pharmacogenomic evidence. These articles provide practical information about genetic testing to guide drug therapy and include therapeutic recommendations based on genotype from medical and professional societies. Each chapter is standardized and includes a summary; a description of drug use, metabolism, and action; the enzymatic activity status of significant alleles; the assignment of likely metabolic phenotype based on genotype; and the translation of allele terms used in published literature to terms used in the laboratory, including HGVS expression, star allele, and dbSNP number. Additional MGS articles review genetic variants that underlie inherited conditions or affect the risk of developing a disease in the future. The primary focus of MGS is on genetic variations that influence how an individual may respond to a specific drug.
Sections
- Acknowledgements
- Introduction
-
Genetic variants and drug responses
-
Abacavir Therapy and
HLA-B*57:01 Genotype -
Allopurinol Therapy and
HLA-B*58:01 Genotype -
Amitriptyline Therapy and
CYP2D6 andCYP2C19 Genotype -
Aripiprazole Therapy and
CYP2D6 Genotype -
Atazanavir Therapy and
UGT1A1 Genotype -
Atomoxetine Therapy and
CYP2D6 Genotype -
Azathioprine Therapy and
TPMT andNUDT15 Genotype -
Belinostat Therapy and
UGT1A1 Genotype - Brivaracetam Therapy and CYP2C19 Genotype
-
Capecitabine Therapy and
DPYD Genotype -
Carbamazepine Therapy and
HLA Genotype -
Carisoprodol Therapy and
CYP2C19 Genotype -
Carvedilol Therapy and
CYP2D6 Genotype -
Celecoxib Therapy and
CYP2C9 Genotype -
Cetuximab Therapy and
RAS andBRAF Genotype -
Chloroquine Therapy and
G6PD Genotype -
Clobazam Therapy and
CYP2C19 Genotype -
Clopidogrel Therapy and
CYP2C19 Genotype -
Clozapine Therapy and
CYP Genotype -
Codeine Therapy and
CYP2D6 Genotype -
Dabrafenib Therapy and
BRAF Genotype -
Deutetrabenazine Therapy and
CYP2D6 Genotype -
Diazepam Therapy and
CYP2C19 Genotype -
Dronabinol Therapy and
CYP2C9 Genotype -
Eliglustat Therapy and
CYP2D6 Genotype -
Esomeprazole Therapy and
CYP2C19 Genotype -
Flibanserin Therapy and
CYP2C19 Genotype -
Fluorouracil Therapy and
DPYD Genotype -
Flurbiprofen Therapy and
CYP2C9 Genotype -
Gentamicin Therapy and
MT-RNR1 Genotype -
Hydroxychloroquine Therapy and
G6PD Genotype -
Imipramine Therapy and
CYP2D6 andCYP2C19 Genotype -
Irinotecan Therapy and
UGT1A1 Genotype -
Lacosamide Therapy and
CYP2C19 Genotype -
Lecanemab Therapy and
APOE Genotype -
Lesinurad Therapy and
CYP2C9 Genotype -
Maraviroc Therapy and
CCR5 Genotype -
Mercaptopurine Therapy and
TPMT andNUDT15 Genotype -
Metoprolol Therapy and
CYP2D6 Genotype -
Omeprazole Therapy and
CYP2C19 Genotype -
Oxycodone Therapy and
CYP2D6 Genotype -
Panitumumab Therapy and
RAS andBRAF Genotype -
Pegloticase Therapy and
G6PD Genotype -
Pertuzumab Therapy and
ERBB2 Genotype -
Phenytoin Therapy and
HLA-B*15:02 andCYP2C9 Genotype -
Piroxicam Therapy and
CYP2C9 Genotype -
Prasugrel Therapy and
CYP Genotype -
Primaquine Therapy and
G6PD andCYP2D6 Genotype -
Propafenone Therapy and
CYP2D6 Genotype -
Rasburicase Therapy and
G6PD andCYB5R Genotype -
Risperidone Therapy and
CYP2D6 Genotype -
Simvastatin Therapy and
SLCO1B1 Genotype -
Siponimod Therapy and
CYP2C9 Genotype -
Sofosbuvir Therapy and
IFNL4 Genotype -
Tafenoquine Therapy and
G6PD Genotype -
Tamoxifen Therapy and
CYP2D6 Genotype -
Thioguanine Therapy and
TPMT andNUDT15 Genotype -
Thioridazine Therapy and
CYP2D6 Genotypes -
Tramadol Therapy and
CYP2D6 Genotype -
Trastuzumab Therapy and
ERBB2 Genotype -
Valbenazine Therapy and
CYP2D6 Genotype -
Vemurafenib Therapy and
BRAF andNRAS Genotype -
Venlafaxine Therapy and
CYP2D6 Genotype -
Voriconazole Therapy and
CYP2C19 Genotype -
Warfarin Therapy and
VKORC1 andCYP Genotype
-
Abacavir Therapy and
- Genetic variants and disease
- Authoring and Peer Review
- Medical Genetics Summaries Expert Reviewers
-
CYP2D6 Overview: Allele and Phenotype Frequencies
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