Associated Genetic Biomarkers
KIT D816H is present in 0.01% of AACR GENIE cases, with central nervous system mixed germ cell tumor, connective and soft tissue neoplasm, melanoma, ovarian neoplasm, and testicular mixed germ cell tumor having the greatest prevalence .
KIT D816H is a predictive biomarker for use of imatinib and sunitinib in patients.
Melanoma has the most therapies targeted against KIT D816H or its related pathways .
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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 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.