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KIT
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Interpretation 2323
Tier 3
KIT
Variants
KIT G565V
Primary Sites
Kidney
Lung
Colon
Thyroid
Tumor Types
Renal Cell Carcinoma
Adenocarcinoma
Papillary Carcinoma
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. Altered forms of this receptor may be associated with many types of cancers including hematopoietic malignancies, gastrointestinal stromal tumors, and various carcinomas and sarcomas. KIT G565V lies within the cytoplasmic domain of the Kit protein; this variant has been documented in the scientific literature (in melanoma). While its effect on Kit protein function is unknown, it is reported in ClinVar as likely benign germline variant (https://preview.ncbi.nlm.nih.gov/clinvar/variation/41600/).

Citations
  1. ClinVar. https://preview.ncbi.nlm.nih.gov/clinvar/variation/41600/
  2. Verstovsek S Advanced systemic mastocytosis: the impact of KIT mutations in diagnosis, treatment, and progression. Eur J Haematol 2013;90(2):89-98
  3. Roskoski R Jr The role of small molecule Kit protein-tyrosine kinase inhibitors in the treatment of neoplastic disorders. Pharmacol Res 2018;133():35-52
  4. Roskoski R Jr The role of small molecule Kit protein-tyrosine kinase inhibitors in the treatment of neoplastic disorders. Pharmacol Res 2018;133():35-52
Last updated: 2019-01-22 19:23:31 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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