Associated Genetic Biomarkers
KIT K642E is present in 0.06% of AACR GENIE cases, with gastrointestinal stromal tumor, cutaneous melanoma, melanoma, anorectal melanoma, and acral lentiginous melanoma having the greatest prevalence .
KIT K642E is a predictive biomarker for use of imatinib and nilotinib in patients.
Melanoma has the most therapies targeted against KIT K642E or its related pathways .
KIT K642E serves as an inclusion eligibility criterion in 1 clinical trial, of which 0 are open and 1 is closed. Of the trial that contains KIT K642E as an inclusion criterion, 1 is phase 2 (0 open).
Trials with KIT K642E in the inclusion eligibility criteria most commonly target acute myeloid leukemia .
Allogeneic bone marrow transplantation, busulfan, cyclophosphamide, fludarabine, and leuprolide are the most frequent therapies in trials with KIT K642E as an inclusion criteria .
Significance of KIT K642E in Diseases
Acute Lymphoblastic Leukemia +
KIT K642E is an inclusion criterion in 1 clinical trial for acute lymphoblastic leukemia, of which 0 are open and 1 is closed. Of the trial that contains KIT K642E and acute lymphoblastic leukemia as inclusion criteria, 1 is phase 2 (0 open) .
Acute Myeloid Leukemia +
Myelodysplastic Syndromes +
KIT is altered in 0.89% of myelodysplastic syndromes patients .
KIT K642E is an inclusion criterion in 1 clinical trial for myelodysplastic syndromes, of which 0 are open and 1 is closed. Of the trial that contains KIT K642E and myelodysplastic syndromes as inclusion criteria, 1 is phase 2 (0 open) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
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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.