Associated Genetic Biomarkers
BTK Loss is present in 0.20% of AACR GENIE cases, with high grade ovarian serous adenocarcinoma, invasive breast carcinoma, uterine corpus leiomyosarcoma, breast invasive ductal carcinoma, and lung adenocarcinoma having the greatest prevalence .
BTK Loss serves as an inclusion eligibility criterion in 4 clinical trials, of which 2 are open and 2 are closed. Of the trials that contain BTK Loss as an inclusion criterion, 1 is phase 1 (0 open) and 3 are phase 2 (2 open).
Trials with BTK Loss in the inclusion eligibility criteria most commonly target chronic lymphocytic leukemia/small lymphocytic lymphoma and chronic lymphocytic leukemia .
Ibrutinib, venetoclax, and duvelisib are the most frequent therapies in trials with BTK Loss as an inclusion criteria .
Significance of BTK Loss in Diseases
Chronic Lymphocytic Leukemia +
BTK Loss is an inclusion criterion in 2 clinical trials for chronic lymphocytic leukemia, of which 1 is open and 1 is closed. Of the trials that contain BTK Loss and chronic lymphocytic leukemia as inclusion criteria, 1 is phase 1 (0 open) and 1 is phase 2 (1 open) .
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +
BTK is altered in 1.31% of chronic lymphocytic leukemia/small lymphocytic lymphoma patients .
BTK Loss is an inclusion criterion in 2 clinical trials for chronic lymphocytic leukemia/small lymphocytic lymphoma, of which 1 is open and 1 is closed. Of the trials that contain BTK Loss and chronic lymphocytic leukemia/small lymphocytic lymphoma as inclusion criteria, 2 are phase 2 (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.