Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Ref Type | |||||||||||||
| PMID | (24869597) | ||||||||||||
| Authors | Furman RR, Cheng S, Lu P, Setty M, Perez AR, Perez AR, Guo A, Racchumi J, Xu G, Wu H, Ma J, Steggerda SM, Coleman M, Leslie C, Wang YL | ||||||||||||
| Title | Ibrutinib resistance in chronic lymphocytic leukemia. | ||||||||||||
|
|||||||||||||
| URL | |||||||||||||
| Abstract Text | |||||||||||||
| Molecular Profile | Treatment Approach |
|---|
| Gene Name | Source | Synonyms | Protein Domains | Gene Description | Gene Role |
|---|
| Therapy Name | Drugs | Efficacy Evidence | Clinical Trials |
|---|
| Drug Name | Trade Name | Synonyms | Drug Classes | Drug Description |
|---|
| Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
|---|---|---|---|---|---|
| BTK | C481A | missense | unknown | BTK C481A lies within the protein kinase domain of the Btk protein (UniProt.org). C481A interferes with drug binding, leading to ibrutinib resistance (PMID: 24869597, PMID: 29875397), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Jun 2025). | Y |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| BTK C481A | chronic lymphocytic leukemia | predicted - resistant | Ibrutinib | Preclinical | Actionable | In a preclinical study, patients with BTK C481 were predicted to have resistance to Imbruvica (ibrutinib) since C481 is in the covalent binding site of the BTK inhibitor and C481A interferes with drug binding (PMID: 24869597). | 24869597 |