Biomarkers /
PDGFRA
Overview
PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) encodes the platelet-derived growth factor receptor alpha protein. PDGFRA mutations lead to kinase activation. Mutant PDGFRA has been implicated in the pathogenesis of a number of cancers. For example, mutations are found in gastrointestinal stromal tumors (GIST; PMID: 15928335; PMID: 12522257), and fusions in hypereosinophilic syndrome (PMID: 12660384) and dermatofibrosarcoma protuberans (PMID: 8988177).
PDGFRA is altered in 2.78% of all cancers with lung adenocarcinoma, conventional glioblastoma multiforme, colon adenocarcinoma, cutaneous melanoma, and gastrointestinal stromal tumor having the greatest prevalence of alterations [3].
The most common alterations in PDGFRA are PDGFRA Mutation (2.26%), PDGFRA Amplification (0.75%), PDGFRA Exon 18 Mutation (0.22%), PDGFRA Exon 12 Mutation (0.19%), and PDGFRA Nonsense (0.15%) [3].
Biomarker-Directed Therapies
Clinical Trials
Significance of PDGFRA in Diseases
References
1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.
4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.