Variant | Gene | Type | COSMIC ID | DNA Change (Coding Nucleotide) | Exon |
---|---|---|---|---|---|
PDGFA Y273F | PDGFA | missense |
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.