Gene:
PDGFRA
platelet-derived growth factor receptor, alpha polypeptide

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB annotates drug labels containing pharmacogenetic information approved by the US Food and Drug Administration (FDA), European Medicines Agency (EMA) and the Pharmaceuticals and Medical Devices Agency, Japan (PMDA). PharmGKB annotations provide a brief summary of the PGx in the label, an excerpt from the label and a downloadable highlighted label PDF file. A list of genes and phenotypes found within the label is mapped to label section headers and listed at the end of each annotation. PharmGKB also attempts to interpret the level of action implied in each label with the "PGx Level" tag.

Sources:

  • FDA Information is gathered from the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" and from FDA-approved labels brought to our attention. Please note that drugs may be removed from or added to the FDA's Table without our knowledge. We periodically check the Table for changes and update PharmGKB accordingly. Drugs listed on the Table to our knowledge are tagged with the Biomarker icon. A drug label that has been removed from the Table will not have the Biomarker icon but will continue to have an annotation on PharmGKB stating the label has been removed from the FDA's Table. We acquire label PDF files from DailyMed.
  • EMA European Public Assessment Reports (EPARs) that contain PGx information were identified from [Article:24433361] and also by searching for drugs for which we have PGx-containing FDA drug labels.

We welcome any information regarding drug labels containing PGx information approved by the FDA, EMA, PMDA or other Medicine Agencies around the world - please contact feedback.


Pharmaceuticals and Medical Devices Agency, Japan (PMDA) Label for imatinib and ABL1, BCR, FIP1L1, KIT, PDGFRA

Genetic testing required

Summary

The PMDA package insert for imatinib contains pharmacogenetic information regarding the indication of the drug in patients with the Kit (CD117)-positive tumors, hypereosinophilic syndrome and/or chronic eosinophilic leukemia with FIP1L1-PDGFR a rearrangement, or Philadelphia chromosome positive (BCR-ABL) acute lymphoblastic leukemia.

Annotation

Please note that the information contained within this drug label annotation is sourced from Shimazawa and Ikeda (2013), whose paper provided a translation of the pharmacogenetic information contained in the PMDA package insert.

Excerpts from the package insert for imatinib:

[Indications]: Kit (CD117) positive gastrointestinal stromal tumors. Precautions for indications: Kit (CD117) immunohistochemistry positive should be detected in patients with gastrointestinal stromal tumors. Assessment for Kit (CD117) positive should be performed by a pathologist with sufficient experience or in a specialized laboratory.

[Indications]: Hypereosinophilic syndrome (HES) and/or chronic eosinophilic leukaemia (CEL) with FIP1L1-PDGFRa rearrangement. Precautions for indications: FIP1L1-PDGFRa rearrangement should be detected in chromosomal or genetic test in patients with HES or CEL.

[Indications]: Philadelphia chromosome positive acute lymphoblastic leukaemia. Precautions for indications: Philadelphia chromosome positive should be detected in chromosomal or genetic test in patients with acute lymphoblastic leukaemia.

For the complete drug label text with sections containing pharmacogenetic information highlighted, see the imatinib package insert (in Japanese).

*Disclaimer: The contents of this page have not been endorsed by the PMDA and are the sole responsibility of PharmGKB.

Genes and/or phenotypes found in this label

  • ABL1
    • Indications & usage section, other
    • source: Pharmaceuticals and Medical Devices Agency, Japan (PMDA) Label
  • BCR
    • Indications & usage section, other
    • source: Pharmaceuticals and Medical Devices Agency, Japan (PMDA) Label
  • FIP1L1
    • Indications & usage section, other
    • source: Pharmaceuticals and Medical Devices Agency, Japan (PMDA) Label
  • KIT
    • Indications & usage section, other
    • source: Pharmaceuticals and Medical Devices Agency, Japan (PMDA) Label
  • PDGFRA
    • Indications & usage section, other
    • source: Pharmaceuticals and Medical Devices Agency, Japan (PMDA) Label

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all PDGFRA variant annotations

Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs35597368 1432T>C, 2479654T>C, 49508T>C, 55139771T>C, Ser478Pro
T > C
Missense
Ser478Pro
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names:  None
Alternate Symbols:  CD140a; PDGFR2
PharmGKB Accession Id: PA33147

Details

Cytogenetic Location: chr4 : q12 - q12
GP mRNA Boundary: chr4 : 55095264 - 55164412
GP Gene Boundary: chr4 : 55085264 - 55167412
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Curated Information ?

Publications related to PDGFRA: 8

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Pharmacogenetic determinants associated with sunitinib-induced toxicity and ethnic difference in Korean metastatic renal cell carcinoma patients. Cancer chemotherapy and pharmacology. 2013. Kim Hye Ryun, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics and pharmacogenomics: role of mutational analysis in anti-cancer targeted therapy. The pharmacogenomics journal. 2012. Savonarola A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2008. Heinrich Michael C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Platelet-derived growth factor-alpha receptor activation is required for human cytomegalovirus infection. Nature. 2008. Soroceanu Liliana, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A quantitative analysis of kinase inhibitor selectivity. Nature biotechnology. 2008. Karaman Mazen W, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Cancer and leukemia group B gastrointestinal cancer committee. Clinical cancer research : an official journal of the American Association for Cancer Research. 2006. Goldberg Richard M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Gain-of-Function Mutations of Receptor Tyrosine Kinases in Gastrointestinal Stromal Tumors. Current genomics. 2006. Isozaki K, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer cell. 2002. Yeoh Eng-Juh, et al. PubMed

LinkOuts

Entrez Gene:
5156
OMIM:
173490
606764
607685
UCSC Genome Browser:
NM_006206
RefSeq RNA:
NM_006206
RefSeq Protein:
NP_006197
RefSeq DNA:
AC_000047
AC_000136
NC_000004
NG_009250
NT_022853
NW_001838913
NW_922162
UniProtKB:
PGFRA_HUMAN (P16234)
Ensembl:
ENSG00000134853
GenAtlas:
PDGFRA
GeneCard:
PDGFRA
MutDB:
PDGFRA
ALFRED:
LO014431N
HuGE:
PDGFRA
Comparative Toxicogenomics Database:
5156
ModBase:
P16234
HumanCyc Gene:
HS05923
HGNC:
8803

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