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 1.27% of all cancers with lung adenocarcinoma, cutaneous melanoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, and diffuse large B-cell lymphoma, not otherwise specified having the greatest prevalence of alterations .
The most common alterations in BTK are BTK Mutation (1.03%), BTK Loss (0.20%), BTK Amplification (0.05%), BTK Codon 481 Missense (0.06%), and BTK C481S (0.06%) .
BTK status serves as an inclusion eligibility criteria in 6 clinical trials, of which 3 are open and 3 are closed. Of the trials that contain BTK status as an inclusion criterion, 3 are phase 1 (1 open) and 3 are phase 2 (2 open).
Trials with BTK status in the inclusion eligibility criteria most commonly target chronic lymphocytic leukemia, chronic lymphocytic leukemia/small lymphocytic lymphoma, waldenstrom macroglobulinemia, mantle cell lymphoma, and marginal zone lymphoma .
The most frequent alterations to serve as inclusion eligibility criteria are BTK Loss, BTK Mutation, and BTK Codon 481 Missense .
Ibrutinib, venetoclax, dasatinib, duvelisib, and temuterkib 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 3 clinical trials for chronic lymphocytic leukemia, of which 1 is open and 2 are closed. Of the trials that contain BTK status and chronic lymphocytic leukemia as inclusion criteria, 2 are 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 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 status and chronic lymphocytic leukemia/small lymphocytic lymphoma as inclusion criteria, 2 are phase 2 (1 open) .
Waldenstrom Macroglobulinemia +
BTK is an inclusion criterion in 2 clinical trials for waldenstrom macroglobulinemia, of which 1 is open and 1 is closed. Of the trials that contain BTK status and waldenstrom macroglobulinemia as inclusion criteria, 2 are phase 1 (1 open) .
Mantle Cell Lymphoma +
Marginal Zone Lymphoma +
BTK is an inclusion criterion in 1 clinical trial for marginal zone lymphoma, of which 0 are open and 1 is closed. Of the trial that contains BTK status and marginal zone lymphoma as inclusion criteria, 1 is phase 1 (0 open) .
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.