Gene

BTK

Bruton tyrosine kinase

Explore in graph →CI-GENE-00022179HGNC:1133 ENSG00000010671 NCBI 695 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (8)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–8 of 8 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
BTK C481R1
Venetoclax	Chronic Lymphocytic Leukemia	Predictive	C	Does Not Support Resistance	2	submitted	EID10374 The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an…

Cohorts

Alteration frequency by cohort (69)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved69 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Chronic Lymphocytic Leukemia (MSK, 2026) cllsll_msk_2026	Small Lymphocytic Lymphoma	Ssm	12	21	57.1%

Literature

Linked publications (4)

25 per page, newest first.

pubmedPublishedShowing 1–4 of 4 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib.
· N Engl J Med · 2014 · PMID 24869598 · validated civic_curation pubmed
Etiology of Ibrutinib Therapy Discontinuation and Outcomes in Patients With Chronic Lymphocytic Leukemia.
· JAMA Oncol · 2015 · PMID 26182309 · validated civic_curation pubmed
BTKC481S-Mediated Resistance to Ibrutinib in Chronic Lymphocytic Leukemia.
· J Clin Oncol · 2017 · PMID 28418267 · validated civic_curation pubmed
Identification of a structurally novel BTK mutation that drives ibrutinib resistance in CLL.
· Oncotarget · 2016 · PMID 27626698 · validated civic_curation pubmed

BTK C481S2
Ibrutinib	Chronic Lymphocytic Leukemia	Predictive	B	Supports Resistance	4	accepted	EID436 Whole exome sequencing of 6 chronic lymphocytic leukemia patients with acquired resistance to ibrutinib determined 5/6 patients harbored a C481S mutation in BTK. PMID 24869598 · Woyach et al., 2014 · Open in CIViC	civic
〃	Chronic Lymphocytic Leukemia	Predictive	B	Supports Resistance	4	accepted	EID1770 In a trial of 308 patients with chronic lymphocytic leukemia treated with ibrutinib, 31 discontinued treatment due to disease progression (13 CLL progression, 18 Richter’s transformation). 11/13 patie… (full text at CIViC) PMID 26182309 · Maddocks et al., 2015 · Open in CIViC	civic

BTK C481S2

Ibrutinib

Chronic Lymphocytic Leukemia

Predictive

Supports Resistance

accepted

EID436

Whole exome sequencing of 6 chronic lymphocytic leukemia patients with acquired resistance to ibrutinib determined 5/6 patients harbored a C481S mutation in BTK.

PMID 24869598 · Woyach et al., 2014 · Open in CIViC

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〃

Chronic Lymphocytic Leukemia

Predictive

Supports Resistance

accepted

EID1770

In a trial of 308 patients with chronic lymphocytic leukemia treated with ibrutinib, 31 discontinued treatment due to disease progression (13 CLL progression, 18 Richter’s transformation). 11/13 patie… (full text at CIViC)

PMID 26182309 · Maddocks et al., 2015 · Open in CIViC

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BTK C481Y1
Venetoclax	Chronic Lymphocytic Leukemia	Predictive	C	Supports Resistance	2	submitted	EID10373 The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC) PMID 32232486 · Lucas et al., 2020 · Open in CIViC	civic

BTK C481Y1

Venetoclax

Chronic Lymphocytic Leukemia

Predictive

Supports Resistance

submitted

EID10373

The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC)

PMID 32232486 · Lucas et al., 2020 · Open in CIViC

civic

BTK Expression1
Ibrutinib	B Acute Lymphoblastic LeukemiaALIAS	Predictive	D	Supports Sensitivity Response	3	submitted	EID9287 A preclinical study investigated BTK inhibitor ibrutinib as a potential inhibitor for patients with pre-BCR + B cell acute lymphoblastic leukemia (B-ALL). In validating the significance of BTK and BLK… (full text at CIViC) PMID 28031181 · Kim et al., 2017 · Open in CIViC	civic

BTK Expression1

Ibrutinib

B Acute Lymphoblastic LeukemiaALIAS

Predictive

Supports Sensitivity Response

submitted

EID9287

A preclinical study investigated BTK inhibitor ibrutinib as a potential inhibitor for patients with pre-BCR + B cell acute lymphoblastic leukemia (B-ALL). In validating the significance of BTK and BLK… (full text at CIViC)

PMID 28031181 · Kim et al., 2017 · Open in CIViC

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BTK MUTATION2
(prognostic)	Chronic Lymphocytic Leukemia	Prognostic	B	Supports Poor Outcome	4	accepted	EID5833 A patient cohort of 308 individuals was created from trials of Ibrutinib in CLL (see Maddocks 2015, PMID: 26182309). A secondary cohort was created from a prospective collection of 112 patients. 83/… (full text at CIViC) PMID 28418267 · Woyach et al., 2017 · Open in CIViC	civic
(oncogenic)	Diffuse Large B-Cell LymphomaCURATED_BROADER	Oncogenic	E	Supports Oncogenicity	4	submitted	EID11938 This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC	civic

BTK MUTATION2

(prognostic)

Chronic Lymphocytic Leukemia

Prognostic

Supports Poor Outcome

accepted

EID5833

A patient cohort of 308 individuals was created from trials of Ibrutinib in CLL (see Maddocks 2015, PMID: 26182309). A secondary cohort was created from a prospective collection of 112 patients. 83/… (full text at CIViC)

PMID 28418267 · Woyach et al., 2017 · Open in CIViC

civic

(oncogenic)

Diffuse Large B-Cell LymphomaCURATED_BROADER

Oncogenic

Supports Oncogenicity

submitted

EID11938

This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC)

PMID 28985567 · Reddy et al., 2017 · Open in CIViC

civic

BTK T316A1
Ibrutinib	Chronic Lymphocytic Leukemia	Predictive	C	Supports Resistance	4	accepted	EID1985 Case report of a patient with CLL and Richter-transformed relapse under ibrutinib (after an initial partial response for 10 months). Sequencing of sequential samples of this patient revealed a novel B… (full text at CIViC) PMID 27626698 · Sharma et al., 2016 · Open in CIViC	civic

BTK T316A1

Ibrutinib

Chronic Lymphocytic Leukemia

Predictive

Supports Resistance

accepted

EID1985

Case report of a patient with CLL and Richter-transformed relapse under ibrutinib (after an initial partial response for 10 months). Sequencing of sequential samples of this patient revealed a novel B… (full text at CIViC)

PMID 27626698 · Sharma et al., 2016 · Open in CIViC

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