Associated Genetic Biomarkers
KIT V654A is present in 0.05% of AACR GENIE cases, with gastrointestinal stromal tumor, cutaneous melanoma, and melanoma having the greatest prevalence .
KIT V654A is a predictive biomarker for use of imatinib and sunitinib in patients.
Melanoma has the most therapies targeted against KIT V654A or its related pathways .
Significance of KIT V654A 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.