KEGG   VARIANT: 5156v2
Entry
5156v2                      Variant                                

Name
PDGFRA avapritinib-susceptible variation
Gene
PDGFRA  platelet derived growth factor receptor alpha [KO:K04363]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation D842V
ClinVar: 13543
dbSNP: rs121908585
Reference
  Authors
Evans EK, Gardino AK, Kim JL, Hodous BL, Shutes A, Davis A, Zhu XJ, Schmidt-Kittler O, Wilson D, Wilson K, DiPietro L, Zhang Y, Brooijmans N, LaBranche TP, Wozniak A, Gebreyohannes YK, Schoffski P, Heinrich MC, DeAngelo DJ, Miller S, Wolf B, Kohl N, Guzi T, Lydon N, Boral A, Lengauer C
  Title
A precision therapy against cancers driven by KIT/PDGFRA mutations.
  Journal
Sci Transl Med 9:eaao1690 (2017)
DOI:10.1126/scitranslmed.aao1690
Reference
  Title
Avapritinib Approved for GIST Subgroup.
  Journal
Cancer Discov 2159-8290.CD-NB2020-003 (2020)
DOI:10.1158/2159-8290.CD-NB2020-003
Reference
  Authors
Florou V, Trent JC, Wilky BA
  Title
Precision medicine in gastrointestinal stromal tumors.
  Journal
Discov Med 28:267-276 (2019)
Reference
  Authors
Gebreyohannes YK, Wozniak A, Zhai ME, Wellens J, Cornillie J, Vanleeuw U, Evans E, Gardino AK, Lengauer C, Debiec-Rychter M, Sciot R, Schoffski P
  Title
Robust Activity of Avapritinib, Potent and Highly Selective Inhibitor of Mutated KIT, in Patient-derived Xenograft Models of Gastrointestinal Stromal Tumors.
  Journal
Clin Cancer Res 25:609-618 (2019)
DOI:10.1158/1078-0432.CCR-18-1858
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