Associated Genetic Biomarkers
Bruton agammaglobulinemia tyrosine kinase (BTK) is a gene that encodes a protein that functions in B-cell development. Missense, nonsense, and silent mutations are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.
BTK is altered in 1.18% of all cancers with non-small cell lung carcinoma, breast carcinoma, melanoma, colorectal adenocarcinoma, and uterine corpus neoplasm having the greatest prevalence of alterations .
The most common alterations in BTK are BTK Mutation (0.59%), BTK Loss (0.08%), BTK Amplification (0.03%), BTK E488K (0.01%), and BTK R123W (0.01%) .
BTK status serves as an inclusion eligibility criteria in 3 clinical trials, of which 2 are open and 1 is closed. Of the trials that contain BTK status as an inclusion criterion, 1 is phase 1 (0 open) and 2 are phase 2 (2 open).
Trials with BTK status in the inclusion eligibility criteria most commonly target chronic lymphocytic leukemia and chronic lymphocytic leukemia/small lymphocytic lymphoma .
The most frequent alteration to serve as an inclusion eligibility criterion is BTK Mutation .
Ibrutinib and venetoclax are the most frequent therapies in trials with BTK as an inclusion criteria .
Significance of BTK in Diseases
Chronic Lymphocytic Leukemia +
BTK 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 status 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 an inclusion criterion in 1 clinical trial for chronic lymphocytic leukemia/small lymphocytic lymphoma, of which 1 is open and 0 are closed. Of the trial that contains BTK status and chronic lymphocytic leukemia/small lymphocytic lymphoma as inclusion criteria, 1 is phase 2 (1 open) .
Ibrutinib and venetoclax are the most frequent therapies in chronic lymphocytic leukemia/small lymphocytic lymphoma trials with BTK alterations as inclusion criteria .
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 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.