Biomarkers /
BTK
Overview
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 [3].
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%) [3].
Clinical Trials
Significance of BTK in Diseases
References
1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta
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.
4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.