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PDGFA
Variants
VariantGeneTypeCOSMIC IDDNA Change (Coding Nucleotide)Exon
PDGFA Y273FPDGFAmissense

Interpretations

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PDGFA
Variants
PDGFA Y273F
Primary Sites
Breast
Tumor Types
Ductal Carcinoma
Interpretation

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.

Last updated: 2016-03-11 19:56:38 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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