Associated Genetic Biomarkers
KIT D816V is present in 0.09% of AACR GENIE cases, with acute myeloid leukemia, systemic mastocytosis, seminoma, melanoma, and acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 having the greatest prevalence .
KIT D816V is a predictive biomarker for use of imatinib, sorafenib, and sunitinib in patients.
Melanoma has the most therapies targeted against KIT D816V or its related pathways .
KIT D816V serves as an inclusion eligibility criterion in 1 clinical trial, of which 1 is open and 0 are closed. Of the trial that contains KIT D816V as an inclusion criterion, 1 is phase 2/phase 3 (1 open).
Significance of KIT D816V in Diseases
Systemic Mastocytosis +
KIT is altered in 35.29% of systemic mastocytosis patients with KIT D816V present in 35.29% of all systemic mastocytosis patients .
KIT D816V is an inclusion criterion in 1 clinical trial for systemic mastocytosis, of which 1 is open and 0 are closed. Of the trial that contains KIT D816V and systemic mastocytosis as inclusion criteria, 1 is phase 2/phase 3 (1 open) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.
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.