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1.  PharmGKB summary: mycophenolic acid pathway 
Pharmacogenetics and genomics  2014;24(1):73-79.
doi:10.1097/FPC.0000000000000010
PMCID: PMC4091813  PMID: 24220207
immunosuppressive agents; inosine monophosphate dehydrogenase; mycophenolate mofetil; mycophenolic acid; pharmacogenetics; pharmacogenomics
2.  PharmGKB summary: venlafaxine pathway 
Pharmacogenetics and genomics  2014;24(1):62-72.
doi:10.1097/FPC.0000000000000003
PMCID: PMC4098656  PMID: 24128936
CYP2C19; CYP2D6; pharmacogenetics; serotonin–norepinephrine reuptake inhibitor; venlafaxine
3.  PharmGKB summary: very important pharmacogene information for cytochrome P450, family 2, subfamily C, polypeptide 8 
Pharmacogenetics and genomics  2013;23(12):721-728.
doi:10.1097/FPC.0b013e3283653b27
PMCID: PMC4038626  PMID: 23962911
CYP2C8; CYP2C8*3; metabolism; pharmacogenetics; pharmacogenomics; pharmGKB
4.  PharmGKB summary: tamoxifen pathway, pharmacokinetics 
Pharmacogenetics and genomics  2013;23(11):643-647.
doi:10.1097/FPC.0b013e3283656bc1
PMCID: PMC4084801  PMID: 23962908
breast cancer; pathway; pharmacogenomics; tamoxifen
5.  PharmGKB summary: Gemcitabine Pathway 
Pharmacogenetics and genomics  2014;24(11):564-574.
doi:10.1097/FPC.0000000000000086
PMCID: PMC4189987  PMID: 25162786
Gemcitabine; deoxycytidine analogs; pancreatic cancer; non-small cell lung cancer; breast cancer; pharmacogenomics
6.  Etoposide pathway 
Pharmacogenetics and genomics  2009;19(7):552-553.
doi:10.1097/FPC.0b013e32832e0e7f
PMCID: PMC4164627  PMID: 19512958
etoposide; pathway; pharmacogenetics; pharmacogenomics; pharmGKB
7.  Platinum pathway 
Pharmacogenetics and genomics  2009;19(7):563-564.
doi:10.1097/FPC.0b013e32832e0ed7
PMCID: PMC4153753  PMID: 19525887
anticancer; drug response; pathway; pharmacogenomics; platinum
8.  PharmGKB summary: uric acid-lowering drugs pathway, pharmacodynamics 
Pharmacogenetics and genomics  2014;24(9):464-476.
doi:10.1097/FPC.0000000000000058
PMCID: PMC4122637  PMID: 24915143
Adverse drug reactions; allopurinol; rasburicase; uric acid; uricosurics; pharmacodynamics; pharmacogenetics
9.  PharmGKB summary: diuretics pathway, pharmacodynamics 
Pharmacogenetics and genomics  2013;23(8):449-453.
doi:10.1097/FPC.0b013e3283636822
PMCID: PMC4084786  PMID: 23788015
diuretics; hypertension; pathway; pharmacogenetic; pharmacogenomic
10.  PharmGKB Summary: Very Important Pharmacogene information for N-acetyltransferase 2 
Pharmacogenetics and genomics  2014;24(8):409-425.
doi:10.1097/FPC.0000000000000062
PMCID: PMC4109976  PMID: 24892773
Acetylation; acetylator; NAT1; NAT2; metabolism; pharmacokinetics; genotype; pharmacogenetics; drug toxicity
11.  PharmGKB summary: cyclosporine and tacrolimus pathways 
Pharmacogenetics and genomics  2013;23(10):563-585.
doi:10.1097/FPC.0b013e328364db84
PMCID: PMC4119065  PMID: 23922006
ABCB1; calcineurin; cyclosporine; CYP3A4; CYP3A5; pharmacodynamics; pharmacogenetics; pharmacokinetics; tacrolimus; transplantation
12.  Very important pharmacogene summary for VDR 
Pharmacogenetics and genomics  2012;22(10):758-763.
doi:10.1097/FPC.0b013e328354455c
PMCID: PMC3678550  PMID: 22588316
drug response; genetic variants; pharmacogenomics; vitamin D receptor
13.  PharmGKB summary: methylene blue pathway 
Pharmacogenetics and genomics  2013;23(9):498-508.
doi:10.1097/FPC.0b013e32836498f4
PMCID: PMC4091817  PMID: 23913015
glucose-6-phosphate dehydrogenase; hemolytic anemia; methemoglobinemia; methylene blue; reduced nicotinamide adenine dinucleotide phosphate; oxidative stress; pentose phosphate pathway; pharmacodynamics; pharmacogenetics; red blood cells
14.  PharmGKB summary: very important pharmacogene information for UGT1A1 
Pharmacogenetics and genomics  2014;24(3):177-183.
doi:10.1097/FPC.0000000000000024
PMCID: PMC4091838  PMID: 24492252
atazanavir; Crigler–Najjar syndrome; Gilbert’s syndrome; indinavir; irinotecan; pharmacogenetics; UGT1A1
15.  PharmGKB summary: abacavir pathway 
Pharmacogenetics and genomics  2014;24(5):276-282.
doi:10.1097/FPC.0000000000000040
PMCID: PMC4074515  PMID: 24625462
abacavir; HIV; HLA-B; HLA-B*57:01; HSP70-HOM; hypersensitivity; pharmacodynamics; pharmacogenetics; pharmacokinetics; PharmGKB
16.  Valproic acid pathway: pharmacokinetics and pharmacodynamics 
Pharmacogenetics and genomics  2013;23(4):236-241.
doi:10.1097/FPC.0b013e32835ea0b2
PMCID: PMC3696515  PMID: 23407051
pathway; pharmacodynamics; pharmacogenomics; pharmacokinetics; valproic acid
17.  PharmGKB Summary: Very Important Pharmacogene Information for Epidermal Growth Factor Receptor (EGFR) 
Pharmacogenetics and genomics  2013;23(11):636-642.
doi:10.1097/FPC.0b013e3283655091
PMCID: PMC3966564  PMID: 23962910
Epidermal growth factor receptor (EGFR); tyrosine kinase inhibitor; erlotinib; gefitinib; pharmacogenomics
18.  PharmGKB summary: zidovudine pathway 
Pharmacogenetics and genomics  2012;22(12):891-894.
doi:10.1097/FPC.0b013e32835879a8
PMCID: PMC3696524  PMID: 22960662
ABCC4; ABCB1; HIV infection; UGT2B7; zidovudine
19.  Metformin pathways: pharmacokinetics and pharmacodynamics 
Pharmacogenetics and genomics  2012;22(11):820-827.
doi:10.1097/FPC.0b013e3283559b22
PMCID: PMC3651676  PMID: 22722338
AMP-activated protein kinase; diabetes mellitus; metformin; multidrug and toxin extrusion 1; OCT1; OCT2; pathway; pharmacodynamics; pharmacogenomic; pharmacokinetics; type 2 diabetes
20.  PharmGKB Summary - Very Important Pharmacogene Information for Cytochrome P-450, Family 2, Subfamily A, polypeptide 6 (CYP2A6) 
Pharmacogenetics and genomics  2012;22(9):695-708.
doi:10.1097/FPC.0b013e3283540217
PMCID: PMC3413746  PMID: 22547082
CYP2A6; inter-individual variation; pharmacokinetics; genetic polymorphisms; drug metabolism; drug efficacy
21.  PharmGKB summary: very important pharmacogene information for CYP3A5 
Pharmacogenetics and genomics  2012;22(7):555-558.
doi:10.1097/FPC.0b013e328351d47f
PMCID: PMC3738061  PMID: 22407409
CYP3A5; CYP3A5*2; CYP3A5*3; CYP3A5*6; CYP3A5*7; pharmacogenomics; rs10264272; rs28365083; rs76293380; rs776746
22.  Evidence synthesis and guideline development in genomic medicine: current status and future prospects 
Purpose
With the accelerated implementation of genomic medicine, health-care providers will depend heavily on professional guidelines and recommendations. Because genomics affects many diseases across the life span, no single professional group covers the entirety of this rapidly developing field.
Methods
To pursue a discussion of the minimal elements needed to develop evidence-based guidelines in genomics, the Centers for Disease Control and Prevention and the National Cancer Institute jointly held a workshop to engage representatives from 35 organizations with interest in genomics (13 of which make recommendations). The workshop explored methods used in evidence synthesis and guideline development and initiated a dialogue to compare these methods and to assess whether they are consistent with the Institute of Medicine report “Clinical Practice Guidelines We Can Trust.”
Results
The participating organizations that develop guidelines or recommendations all had policies to manage guideline development and group membership, and processes to address conflicts of interests. However, there was wide variation in the reliance on external reviews, regular updating of recommendations, and use of systematic reviews to assess the strength of scientific evidence.
Conclusion
Ongoing efforts are required to establish criteria for guideline development in genomic medicine as proposed by the Institute of Medicine.
doi:10.1038/gim.2014.69
PMCID: PMC4272332  PMID: 24946156
evidence synthesis; genomic medicine; guideline development
23.  PharmGKB summary: caffeine pathway 
Pharmacogenetics and Genomics  2012;22(5):389-395.
doi:10.1097/FPC.0b013e3283505d5e
PMCID: PMC3381939  PMID: 22293536
ADORA2A; caffeine; CYP1A2; pathway; pharmacogenomics
24.  Celecoxib pathways: pharmacokinetics and pharmacodynamics 
Pharmacogenetics and Genomics  2012;22(4):310-318.
doi:10.1097/FPC.0b013e32834f94cb
PMCID: PMC3303994  PMID: 22336956
cardiovascular toxicity; colon cancer; COX-2; coxibs; celecoxib; CYP2C9; drug response; inflammation; nonsteroidal anti-inflammatory drugs; pathway; pharmacogenomics; selective COX-2 inhibitors
25.  PATH-SCAN: A REPORTING TOOL FOR IDENTIFYING CLINICALLY ACTIONABLE VARIANTS 
The American College of Medical Genetics and Genomics (ACMG) recently released guidelines regarding the reporting of incidental findings in sequencing data. Given the availability of Direct to Consumer (DTC) genetic testing and the falling cost of whole exome and genome sequencing, individuals will increasingly have the opportunity to analyze their own genomic data. We have developed a web-based tool, PATH-SCAN, which annotates individual genomes and exomes for ClinVar designated pathogenic variants found within the genes from the ACMG guidelines. Because mutations in these genes predispose individuals to conditions with actionable outcomes, our tool will allow individuals or researchers to identify potential risk variants in order to consult physicians or genetic counselors for further evaluation. Moreover, our tool allows individuals to anonymously submit their pathogenic burden, so that we can crowd source the collection of quantitative information regarding the frequency of these variants. We tested our tool on 1092 publicly available genomes from the 1000 Genomes project, 163 genomes from the Personal Genome Project, and 15 genomes from a clinical genome sequencing research project. Excluding the most commonly seen variant in 1000 Genomes, about 20% of all genomes analyzed had a ClinVar designated pathogenic variant that required further evaluation.
PMCID: PMC4008882  PMID: 24297550

Results 1-25 (83)