Associated Genetic Biomarkers
DOT1-like histone H3K79 methyltransferase (DOT1L) is a gene that encodes a protein that functions as a histone meythltransferase that methylates lysine-79 of histone H3. Missense mutations, nonsense mutations, silent mutations, frameshift insertions, and in-frame deletions are observed in cancers such as intestinal cancer, stomach cancer, and cancers of the urinary tract.
DOT1L is altered in 2.46% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in DOT1L are DOT1L Mutation (2.02%), DOT1L Loss (0.23%), DOT1L Amplification (0.06%), DOT1L R853C (0.02%), and DOT1L T735M (0.02%) .
DOT1L status serves as an inclusion eligibility criteria in 1 clinical trial, of which 1 is open and 0 are closed. Of the trial that contains DOT1L status as an inclusion criterion, 1 is phase 2 (1 open).
Trials with DOT1L status in the inclusion eligibility criteria most commonly target bladder carcinoma and urothelial carcinoma .
The most frequent alteration to serve as an inclusion eligibility criterion is DOT1L Mutation .
Olaparib is the most frequent therapy in trials with DOT1L as an inclusion criteria .
Significance of DOT1L in Diseases
Urothelial Carcinoma +
Bladder Carcinoma +
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. 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.