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Interpretation 2260
Tier 3
KIT
Variants
KIT D45N
Primary Sites
Brain
Tumor Types
Glioblastoma
Interpretation

KIT, also known as proto-oncogene c-Kit or tyrosine-protein kinase Kit or CD117, is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of tissue types. Signaling through CD117 plays a role in cell survival, proliferation, and differentiation. KIT is found in approximately 1% of glioblastomas. The KIT D45N variant is in the extracellular domain, however, its effect on protein function is unknown. The clinical significance of KIT in glioblastoma and the clinicopathologic effect of this variant remains to be further elucidated.

Citations
  1. Miettinen M, et al. KIT (CD117): a review on expression in normal and neoplastic tissues, and mutations and their clinicopathologic correlation. Appl Immunohistochem Mol Morphol 2005;13(3):205-20
  2. Glioblastoma Multiforme (TCGA, PanCancer Atlas) cbioportal.org
  3. Roskoski, R. Structure and regulation of Kit protein-tyrosine kinase---The stem cell factor receptor. Biochemical and Biophysical Research Communications 2005:338(3):1307-1315
Last updated: 2018-06-13 18:57:34 UTC
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