Associated Genetic Biomarkers
KIT Y553N is present in 0.10% of AACR GENIE cases, with gastrointestinal stromal tumor having the greatest prevalence .
KIT Y553N is a predictive biomarker for use of imatinib, sorafenib, and sunitinib in patients.
Melanoma and thymic carcinoma have the most therapies targeted against KIT Y553N or its related pathways .
Thymic Carcinoma -
Significance of KIT Y553N in Diseases
Thymic Carcinoma +
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Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.
4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.