Gene | PDGFA |
Variant | missense |
Amino Acid Change | Y273F |
Transcript ID (GRCh37/hg19) | ENST00000354513 |
Codon | 273 |
Germline/Somatic? | Somatic |
Tumor Type | Primary Site |
---|
Although PDGFRA activating mutations in patients with GIST, primarily D842V, were reported to be associated with resistance to the tyrosine kinase inhibitor, Imatinib; however, PDGFRA mutations in breast cancer are very rare. Moreover, this specific missense mutation in the extracellular domain of PDGFRA, has not been reported and its clinical significance is unknown.