Gene | PDGFRA |
Variant | CNV |
Transcript ID (GRCh37/hg19) | ENST00000257290 |
Germline/Somatic? | Somatic |
Tumor Type | Primary Site |
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PDGFRA amplification is reportedly present in up to 29% of pediatric and 21% of adult high-grade astrocytomas when assessed by fluorescent in situ hydridization. Copy number alterations of this gene have been reported in approximately 11% of adult glioblastoma making it the second most commonly altered receptor tyrosine kinase after EGFR. In those adult glioblastomas that are IDH-mutant, there is evidence to suggest that amplification of PDGFRA is associated with worse overall survival.
This gene is a known cancer gene.