Associated Genetic Biomarkers
KIT N822Y is present in 0.02% of AACR GENIE cases, with gastrointestinal stromal tumor, melanoma, seminoma, testicular non-seminomatous germ cell tumor, and vulvar/vaginal mixed germ cell tumor having the greatest prevalence .
KIT N822Y is a predictive biomarker for use of sorafenib in patients.
Melanoma has the most therapies targeted against KIT N822Y or its related pathways .
Significance of KIT N822Y in Diseases
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.