Gene

CREBBP

CREB binding lysine acetyltransferase

Explore in graph →CI-GENE-00042201HGNC:2348 ENSG00000005339 NCBI 1387 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
CREBBP Deletion1
C646	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	3	submitted

Cohorts

Alteration frequency by cohort (200)

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

cbioportalObserved200 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
TMB and Immunotherapy (MSK, Nat Genet 2019) tmb_mskcc_2018	unmapped	Ssm	106	1,661

Literature

Linked publications (3)

25 per page, newest first.

pubmedPublishedShowing 1–3 of 3 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Pediatric acute myeloid leukemia with t(8;16)(p11;p13), a distinct clinical and biological entity: a collaborative study by the International-Berlin-Frankfurt-Munster AML-study group.
· Blood · 2013 · PMID 23974201 · validated civic_curation pubmed
A novel specific signature of pediatric MOZ-CBP acute myeloid leukemia.
· Leuk Res · 2010 · PMID 20630590 · validated civic_curation pubmed
FISH identifies a KAT6A/CREBBP fusion caused by a cryptic insertional t(8;16) in a case of spontaneously remitting congenital acute myeloid leukemia with a normal karyotype.
· Pediatr Blood Cancer · 2017 · PMID 28097792 · validated civic_curation pubmed

CREBBP HAT mutation1
MTOR Inhibitor	Follicular Lymphoma	Predictive	B	Supports Sensitivity Response	3	submitted	EID12290 Two phase II clinical trials examined mTOR inhibitors, everolimus (NCT00436618) or temsirolimus (NCT00290472) in relapsed/refractory FL. Tumour blocks were collected from these trials for 21 cases (15… (full text at CIViC) PMID 39188028 · Kumar et al., 2024 · Open in CIViC	civic

CREBBP HAT mutation1

MTOR Inhibitor

Follicular Lymphoma

Predictive

Supports Sensitivity Response

submitted

EID12290

Two phase II clinical trials examined mTOR inhibitors, everolimus (NCT00436618) or temsirolimus (NCT00290472) in relapsed/refractory FL. Tumour blocks were collected from these trials for 21 cases (15… (full text at CIViC)

PMID 39188028 · Kumar et al., 2024 · Open in CIViC

civic

CREBBP Mutation2
(oncogenic)	Diffuse Large B-Cell LymphomaCURATED_BROADER	Oncogenic	E	Supports Oncogenicity	4	submitted	EID11927 This study showed that CREBBP and EP300 were recurrently mutated in DLBCL PMID 21390126 · Pasqualucci et al., 2011 · Open in CIViC	civic
Therapeutic Glucocorticoid	Acute Lymphoblastic Leukemia	Predictive	D	Supports Resistance	3	submitted	EID8501 Mullighan et al analyzed a cohort of 71 diagnosis-relapse cases and 270 acute leukaemia cases that did not relapse. The authors found that 18.3% of relapse cases had sequence or deletion mutations of … (full text at CIViC) PMID 21390130 · Mullighan et al., 2011 · Open in CIViC	civic

CREBBP Mutation2

(oncogenic)

Diffuse Large B-Cell LymphomaCURATED_BROADER

Oncogenic

Supports Oncogenicity

submitted

EID11927

This study showed that CREBBP and EP300 were recurrently mutated in DLBCL

PMID 21390126 · Pasqualucci et al., 2011 · Open in CIViC

civic

Therapeutic Glucocorticoid

Acute Lymphoblastic Leukemia

Predictive

Supports Resistance

submitted

EID8501

Mullighan et al analyzed a cohort of 71 diagnosis-relapse cases and 270 acute leukaemia cases that did not relapse. The authors found that 18.3% of relapse cases had sequence or deletion mutations of … (full text at CIViC)

PMID 21390130 · Mullighan et al., 2011 · Open in CIViC

civic

CREBBP R1446C1
HDAC Inhibitor OBP-801	Lymphoma	Predictive	D	Supports Sensitivity Response	2	submitted	EID12291 Lymphoma cell lines with CREBBP R1446C mutations demonstrated heightened sensitivity to the HDAC3 inhibitor BRD3308. Both CREBBP R1446C and CREBBP KO cell lines showed significantly greater inhibition… (full text at CIViC) PMID 31915197 · Mondello et al., 2020 · Open in CIViC	civic

CREBBP R1446C1

HDAC Inhibitor OBP-801

Lymphoma

Predictive

Supports Sensitivity Response

submitted

EID12291

Lymphoma cell lines with CREBBP R1446C mutations demonstrated heightened sensitivity to the HDAC3 inhibitor BRD3308. Both CREBBP R1446C and CREBBP KO cell lines showed significantly greater inhibition… (full text at CIViC)

PMID 31915197 · Mondello et al., 2020 · Open in CIViC

civic

CREBBP Fusion3
(diagnostic)	Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3); KAT6A-CREBBPALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12153 This is an international retrospective study by International Berlin-Frankfurt-Munster (I-BFM) AML study group including 543 pediatric AML patients from 18 countries diagnosed between 1995-2005. The a… (full text at CIViC) PMID 23974201 · Coenen et al., 2013 · Open in CIViC	civic
〃	Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3); KAT6A-CREBBPALIAS	Diagnostic	B	Supports Positive	3	accepted	EID12154 This manuscript is the first report of a unique expression profile in pediatric AML with KAT6A::CREBBP gene fusion (known also as MOZ::CBP or MYST3::CREBBP). Genomic studies and gene expression profil… (full text at CIViC) PMID 20630590 · Serravalle et al., 2010 · Open in CIViC	civic
〃	Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3); KAT6A-CREBBPALIAS	Diagnostic	C	Supports Positive	3	accepted	EID12155 The authors reported a congenital AML case with leukemia cutis and a cryptic insertional t(8;16)(p11.2;p13.3)/KAT6A::CREBBP fusion identified exclusively by FISH. They found KAT6A::CREBBP fusion in 11… (full text at CIViC) PMID 28097792 · Barrett et al., 2017 · Open in CIViC	civic

CREBBP Fusion3

(diagnostic)

Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3); KAT6A-CREBBPALIAS

Diagnostic

Supports Positive

accepted

EID12153

This is an international retrospective study by International Berlin-Frankfurt-Munster (I-BFM) AML study group including 543 pediatric AML patients from 18 countries diagnosed between 1995-2005. The a… (full text at CIViC)

PMID 23974201 · Coenen et al., 2013 · Open in CIViC

civic

〃

Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3); KAT6A-CREBBPALIAS

Diagnostic

Supports Positive

accepted

EID12154

This manuscript is the first report of a unique expression profile in pediatric AML with KAT6A::CREBBP gene fusion (known also as MOZ::CBP or MYST3::CREBBP). Genomic studies and gene expression profil… (full text at CIViC)

PMID 20630590 · Serravalle et al., 2010 · Open in CIViC

civic

〃

Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3); KAT6A-CREBBPALIAS

Diagnostic

Supports Positive

accepted

EID12155

The authors reported a congenital AML case with leukemia cutis and a cryptic insertional t(8;16)(p11.2;p13.3)/KAT6A::CREBBP fusion identified exclusively by FISH. They found KAT6A::CREBBP fusion in 11… (full text at CIViC)

PMID 28097792 · Barrett et al., 2017 · Open in CIViC

civic