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Journal articles on the topic 'CREBBP'

Author: Grafiati

Published: 9 March 2023

Last updated: 31 July 2025

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1

Yu, Chuanjiang, Mara Holloman, Andrew Kim, et al. "Differential Role of Crebbp Missense and Truncating Mutations in the Malignant Transformation of Germinal Center B Cells." Blood 144, Supplement 1 (2024): 47. https://doi.org/10.1182/blood-2024-208876.

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Somatic mutations of the CREBBP acetyltransferase are highly recurrent in germinal center (GC)-derived lymphomas, including follicular lymphoma (FL, 60% of cases) and diffuse large B cell lymphoma (DLBCL; 40% of cases in the EZB/C3 genetic subtype). Mutations include prototypical inactivating events that abrogate the C-terminal acetyltransferase (AT) domain, as well as amino-acid changes clustering within this domain, which impair the protein enzymatic activity by decreasing its affinity for acetyl-coenzyme A (Pasqualucci et al., Nature 2011). These events are acquired early during lymphomagen

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2

Meyer, Stefanie, Sofija Vlasevska, Laura Garcia Ibanez, Claudio Scuoppo, Riccardo Dalla-Favera, and Laura Pasqualucci. "Targeting Histone Acetyltransferase Gene Inactivation in Diffuse Large B Cell Lymphoma." Blood 132, Supplement 1 (2018): 671. http://dx.doi.org/10.1182/blood-2018-99-117542.

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Abstract Diffuse Large B-cell Lymphoma (DLBCL) is the most common form of non-Hodgkin lymphoma, accounting for ~30% of de-novo diagnoses and also arising as a frequent clinical evolution of indolent lymphomas. Although curable in a substantial fraction of cases, one third of patients do not achieve durable remissions, highlighting the need for novel, targeted therapies. Over the past decade, we and others have identified the CREBBP acetyltransferase and, less frequently, its paralogue EP300 as highly recurrent targets of inactivating somatic mutations/deletions in DLBCL and follicular lymphoma

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3

Ying, Hsia-Yuan, Yanwen Jiang, Ana Ortega-Molina, et al. "Crebbp Mutations Disrupt Dynamic Enhancer Acetylation in B-Cells, Enabling HDAC3 to Drive Lymphomagenesis." Blood 128, no. 22 (2016): 735. http://dx.doi.org/10.1182/blood.v128.22.735.735.

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Abstract Somatic mutations in CREBBP occur frequently in germinal center derived lymphomas such as DLBCL and FL. However whether or how these mutations might contribute to lymphomagenesis is still largely unknown. Most CREBBP mutations are predicted to result in loss of function since they target the histone acetyltransferase (HAT) domain or give rise to premature stop codon prior to the HAT domain. Here, we show that Crebbp shRNA knockdown (KD) accelerated lymphomagenesis in VavP-Bcl2 transgenic mice, a model that recapitulates human GC-derived lymphomas. The median time to lymphoma onset in

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4

LeBlanc, Francis, Josh Bennett, Kwangmin Choi, and Daniel T. Starczynowski. "Targeting CREB-Binding Protein (CREBBP) Overcomes Resistance to Azacitidine and Venetoclax Therapy in Acute Myeloid Leukemia (AML)." Blood 142, Supplement 1 (2023): 5765. http://dx.doi.org/10.1182/blood-2023-187063.

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Acute myeloid leukemia (AML) is a clonal myeloid malignancy arising from hematopoietic stem or progenitor cells (HSPC) within the bone marrow (BM). Despite advancements in our understanding of AML pathogenesis, patients continue to face grim outcomes, with a five-year relative survival rate of approximately 20%. This highlights the pressing need to identify molecular features of AML that are amenable to therapeutic intervention. The ideal molecular targets would be those broadly dysregulated and integral to multiple signaling pathways implicated in AML pathogenesis. Recent therapeutic regimens

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Lamble, Adam J., Robert B. Gerbing, Jenny L. Smith, et al. "Crebbp Alterations Are Associated with a Poor Prognosis in De Novo AML." Blood 138, Supplement 1 (2021): 3451. http://dx.doi.org/10.1182/blood-2021-154052.

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Abstract Introduction: The translocation, t(8;16)(p11;p13), results in the fusion between KAT6A and CREBBP and has been associated with a poor prognosis in both pediatric and adult acute myeloid leukemia (AML). This lesion has therefore been re-classified as high risk on the active Phase 3 Children's Oncology Group (COG) trial for de novo AML, AAML1831 (NCT04293562). Less is known about the prognostic significance of CREBBP sequence variants. Methods: CREBBP variant status was determined in patients with AML enrolled on 4 successive COG trials for de novo pediatric AML (NCT00003790, NCT0007017

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6

Zhu, Yu, Zi Wang, Yanan Li, et al. "The Role of CREBBP/EP300 and Its Therapeutic Implications in Hematological Malignancies." Cancers 15, no. 4 (2023): 1219. http://dx.doi.org/10.3390/cancers15041219.

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Disordered histone acetylation has emerged as a key mechanism in promoting hematological malignancies. CREB-binding protein (CREBBP) and E1A-binding protein P300 (EP300) are two key acetyltransferases and transcriptional cofactors that regulate gene expression by regulating the acetylation levels of histone proteins and non-histone proteins. CREBBP/EP300 dysregulation and CREBBP/EP300-containing complexes are critical for the initiation, progression, and chemoresistance of hematological malignancies. CREBBP/EP300 also participate in tumor immune responses by regulating the differentiation and

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7

Hashwah, Hind, Corina A. Schmid, Sabrina Kasser, et al. "Inactivation of CREBBP expands the germinal center B cell compartment, down-regulates MHCII expression and promotes DLBCL growth." Proceedings of the National Academy of Sciences 114, no. 36 (2017): 9701–6. http://dx.doi.org/10.1073/pnas.1619555114.

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The genes encoding the histone acetyl-transferases (HATs) CREB binding protein (CREBBP) and EP300 are recurrently mutated in the activated B cell-like and germinal center (GC) B cell-like subtypes of diffuse large B cell lymphoma (DLBCL). Here, we introduced a patient mutation into a human DLBCL cell line using CRISPR and deleted Crebbp and Ep300 in the GC B cell compartment of mice. CREBBP-mutant DLBCL clones exhibited reduced histone H3 acetylation, expressed significantly less MHCII, and grew faster than wild-type clones in s.c. and orthotopic xenograft models. Mice lacking Crebbp in GC B c

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8

Zimmer, Stephanie N., Qing Zhou, Ting Zhou, et al. "Crebbp haploinsufficiency in mice alters the bone marrow microenvironment, leading to loss of stem cells and excessive myelopoiesis." Blood 118, no. 1 (2011): 69–79. http://dx.doi.org/10.1182/blood-2010-09-307942.

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Abstract CREB-binding protein (CREBBP) is important for the cell-autonomous regulation of hematopoiesis, including the stem cell compartment. In the present study, we show that CREBBP plays an equally pivotal role in microenvironment-mediated regulation of hematopoiesis. We found that the BM microenvironment of Crebbp+/− mice was unable to properly maintain the immature stem cell and progenitor cell pools. Instead, it stimulates myeloid differentiation, which progresses into a myeloproliferation phenotype. Alterations in the BM microenvironment resulting from haploinsufficiency of Crebbp inclu

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9

Huntly, Brian J. P., Sarah Jayne Horton, George Giotopoulos, et al. "Early Loss of CREBBP Confers Malignant Stem Cell Properties on Lymphoid Progenitors." Blood 128, no. 22 (2016): 460. http://dx.doi.org/10.1182/blood.v128.22.460.460.

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Abstract Loss-of-function mutations of the cyclic-AMP response element binding protein, binding protein (CREBBP) gene have recently been described at high frequencies across a spectrum of lymphoid malignancies, particularly follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL). The multiple effects of this epigenetic regulator on developmental and homeostatic processes have been extensively studied, however, exactly how CREBBP functions as a tumor suppressor and the reasons for its particular predilection for suppression of lymphoid tumors remains unclear. In addition, for many ma

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10

Peck, Barrie, Philip Bland, Ionnana Mavrommati, et al. "3D functional genomics screens identify CREBBP as a targetable driver in aggressive triple-negative breast cancer." Cancer Res 81, no. 4 (2021): 847–59. https://doi.org/10.1158/0008-5472.CAN-20-1822.

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Triple-negative breast cancers (TNBC) are resistant to standard-of-care chemotherapy and lack known targetable driver gene alterations. Identification of novel drivers could aid the discovery of new treatment strategies for this hard-to-treat patient population, yet studies using high-throughput and accurate models to define the functions of driver genes in TNBC to date have been limited. Here, we employed unbiased functional genomics screening of the 200 most frequently mutated genes in breast cancer, using spheroid cultures to model <em>in vivo</em>–like conditions, and identified

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11

Jamileh, Malbin. "Deletion of SHANK3 and CREBBP gene in the patients with intellectual disability and mix phenotype." International Journal Of Genetic Medicine And Gene Therapy 1, no. 1 (2019): 15–20. https://doi.org/10.36811/ijgmgt.2019.110004.

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Rubinstein-Taybi Syndrome (RSTS) as a group of congenital anomalies mainly include, short broad thumbs and toes, short stature and intellectual disability are caused by either a micro-deletion in the CREBBP (CBP) or <em>EP300</em> genes. Generally most RSTS patients have a deletion in the <em>CREBBP</em> gene but some patients have shown deletion in the EP300 gene. Here we introduce an affected case without some typical characteristics of RSTS with deletions in the <em>CREBBP</em> and <em>SHANK3</em> genes. The patient was a 24 years old man with a histo

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12

Idoia, García-Ramírez, Shashank Shrishrimal, Ines Gonzalez-Herrero, et al. "CREBBP Loss Cooperates with BCL2 Over-Expression to Promote Lymphoma in Mice." Blood 128, no. 22 (2016): 458. http://dx.doi.org/10.1182/blood.v128.22.458.458.

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Abstract Follicular lymphoma (FL) is genetically characterized by translocations of the BCL2 oncogene that are found in ~90% of patients, and mutations of chromatin modifying genes that are found in up to 96% of patients. The latter include inactivating mutations of KMT2D and CREBBP, and activating mutations of EZH2, among others. However, CREBBP has yet to be investigated using this approach. We recently defined the evolutionary hierarchy of somatic mutations in FL and found that CREBBP mutations were most frequently acquired as early events during disease evolution and were maintained throug

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13

Dixon, Zach, Julie A. E. Irving, and Lindsay Nicholson. "Crebbp K nockdown Does Not Impact on Glucocorticoid Induced Apoptosis in Childhood Acute Lymphoblastic Leukemia." Blood 126, no. 23 (2015): 1429. http://dx.doi.org/10.1182/blood.v126.23.1429.1429.

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Abstract Childhood acute lymphoblastic leukemia (ALL) is the most common childhood cancer and, despite a cure rate approaching 90%, relapse is a significant cause of death in young people. Recently it has been shown that inactivating mutations in the histone acetyltransferase, CREB binding protein (CREBBP or CBP) are frequently seen at relapse in childhood ALL, with enrichment in high hyperdiploid and hypodiploid cases. Mutations are usually heterozygous, suggesting haploinsufficiency, and are often acquired at relapse, implying a role in drug resistance. Since glucocorticoid (GC) response gen

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14

Xu, Abai, and Tingting Chen. "Abstract 5102: Correlation analysis of CREBBP mutation with tumor mutation burden and effect of immune checkpoint therapy in bladder cancer." Cancer Research 82, no. 12_Supplement (2022): 5102. http://dx.doi.org/10.1158/1538-7445.am2022-5102.

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Abstract Background: CREB-binding protein (CREBBP, hereafter CBP) encoded the protein having intrinsic histone acetyltransferase activity, which stabilized the additional protein interactions with the transcription complex. The mutation of CREBBP has been reported that caused Rubinstein-Taybi syndrome (RTS) and associated with acute myeloid leukemia, but not been studied in bladder cancer (BLCA). Immune checkpoint therapy (ICI) has significantly became one of the primary treatment of BLCA, and Tumor mutation burden (TMB) has been regarded as the most prevalent biomarker to predict immunotherap

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15

Feng, Dapeng, Zhengwei Li, Liang Yang, et al. "BMSC-EV-derived lncRNA NORAD Facilitates Migration, Invasion, and Angiogenesis in Osteosarcoma Cells by Regulating CREBBP via Delivery of miR-877-3p." Oxidative Medicine and Cellular Longevity 2022 (March 1, 2022): 1–19. http://dx.doi.org/10.1155/2022/8825784.

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Bone marrow mesenchymal stem cells (BMSCs) can boost osteosarcoma (OS) cell proliferation and invasion, yet the function of extracellular vesicles (EVs) derived from BMSCs on OS is scarcely known. This study is aimed at examining the role of BMSC-EVs in OS cells. BMSCs and BMSC-EVs were isolated and identified. The effect of EVs and EVs-si-NORAD on OS cell proliferation, invasion, migration, and angiogenesis was determined. Expressions of NORAD, miR-877-3p, and CREBBP were detected. The binding relationship among NORAD, miR-877-3p, and CREBBP was verified. The miR-877-3p inhibitor or pc-CREBBP

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16

Gimenez, Alicia Garcia, Jonathan Ditcham, Dhoyazan M. Azazi, et al. "Abstract 363: Genetic or pharmacological inactivation of CREBBP sensitizes B-cell acute lymphoblastic leukemia to ferroptotic cell death upon BCL2 inhibition." Cancer Research 84, no. 6_Supplement (2024): 363. http://dx.doi.org/10.1158/1538-7445.am2024-363.

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Abstract B-cell acute lymphoblastic leukemia (B-ALL) is an aggressive hematological malignancy of B lineage progenitors. It remains a leading cause of death in childhood, while outcomes in adults are dismal. There is therefore a need to better understand drivers of high-risk B-ALL and to develop novel therapeutic approaches targeting these challenging patient cohorts. Loss-of-function mutations affecting CREBBP are recurrent second-hit mutations across multiple genetic subtypes of B-ALL and are associated with adverse features, including high-risk genetic subtypes and persistent measurable res

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17

García-Ramírez, Idoia, Saber Tadros, Inés González-Herrero, et al. "Crebbp loss cooperates with Bcl2 overexpression to promote lymphoma in mice." Blood 129, no. 19 (2017): 2645–56. http://dx.doi.org/10.1182/blood-2016-08-733469.

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Key Points Crebbp inactivation perturbs B-cell development, but cooperates with Bcl2 overexpression to promote lymphoma. Transcriptional and epigenetic signatures of Crebbp loss implicate Myc in disease etiology.

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18

Tokunaga, Kenji, Shunichiro Yamaguchi, Eisaku Iwanaga, et al. "Crebbp HAT Domain Mutations Are Frequently Detected in Adult Acute Lymphoblastic Leukemia." Blood 120, no. 21 (2012): 1419. http://dx.doi.org/10.1182/blood.v120.21.1419.1419.

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Abstract Abstract 1419 Aims: Molecular pathogenesis of acute lymphoblastic leukemia (ALL) has largely been verified in pediatric patients and the identification of genetic alterations have contributed to stratifying therapeutic applications. In adult patients with ALL, cytogenetic and genetic abnormalities have not sufficiently been elucidated and therapeutic improvement has been hindered. CREB binding protein (CREBBP) is a transcriptional coactivator that interacts with a diverse range of transcription factors and regulates transcription by histone acetylation in hematopoiesis. Mutations of t

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19

Camos, Mireia, Jordi Esteve, Dolors Colomer, et al. "Gene Expression Signature of Acute Myeloid Leukemia (AML) with T(8;16)(P11;P13) and MYST3-CREBBP Rearrangement: A Microarray Study Validated by Multiple Real-Time PCR." Blood 106, no. 11 (2005): 3009. http://dx.doi.org/10.1182/blood.v106.11.3009.3009.

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Abstract AML with t(8;16)(p11;p13) is an infrequent leukemia subtype with characteristic clinical-biological features. The t(8;16)(p11;p13) translocation leads to the fusion of MYST3 and CREBBP genes, probably resulting in a disturbed transcriptional program of a myelo-monocytic precursor. In this study, the genetic signature of MYST3-CREBBP AML was compared with other well-defined AML subtypes. Genotypic analyses using oligonucleotide U133A arrays (Affymetrix) were performed on RNA of 23 AML patients, including three MYST3-CREBBP cases, PML-RARa (n=3), RUNX1-CBF2T1 (n=3), CBFβ-MYH11 (n=3), t(

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20

Chafai Elalaoui, Siham, Wiam Smaili, Julien Van-Gils, et al. "Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome." African Health Sciences 21, no. 2 (2021): 960–67. http://dx.doi.org/10.4314/ahs.v21i2.58.

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Background: Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant developmental disorder with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical face, broad thumbs and halluces, short stature, and intellectual disability. Facial dysmorphy is characteristic with microcephaly, low frontal hairline, arched eyebrows, long eyelashes, convex profile of nose, narrow palate, and micrognathia. RSTS is mainly due to mutations or microdeletions of the CREBBP gene (about 60%) and more rarely of the EP300 gene (8%). Objective: Clinical d

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21

Al-Qattan, Mohammad M., Zuhair A. Rahbeeni, Zuhair N. Al-Hassnan, et al. "Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy." Case Reports in Genetics 2020 (January 9, 2020): 1–5. http://dx.doi.org/10.1155/2020/6143050.

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The classic Rubinstein–Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the CREBBP gene (with a preserved 5′ region), which might explain his relatively m

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22

Meyerhöfer, Markus, Viral Shah, Aarón Gallego-Crespo, et al. "The Transcriptional Activators p300/Crebbp Are Context-Dependent Functional Repressors of Interferon Genes, Offering Therapeutic Promise in AML." Blood 144, Supplement 1 (2024): 152. https://doi.org/10.1182/blood-2024-194781.

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The lysine acetyltransferase (KAT) enzymes p300 and CREBBP, primarily recognized as histone acetyltransferases, are pivotal co-activators in acute myeloid leukemia (AML) maintenance. However, the traditional view of histone acetylation as a basic mechanism for transcriptional activation is increasingly being challenged, while the role of p300/CREBBP in acetylating non-histone proteins remains largely unexplored. This gap confounds the rationale for advancing novel p300/CREBBP KAT inhibitors to clinical trials, as a comprehensive understanding of p300/CREBBP functions is crucial for their effec

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Bommi-Reddy, Archana, Sungmi Park-Chouinard, David N. Mayhew, et al. "CREBBP/EP300 acetyltransferase inhibition disrupts FOXA1-bound enhancers to inhibit the proliferation of ER+ breast cancer cells." PLOS ONE 17, no. 3 (2022): e0262378. http://dx.doi.org/10.1371/journal.pone.0262378.

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Therapeutic targeting of the estrogen receptor (ER) is a clinically validated approach for estrogen receptor positive breast cancer (ER+ BC), but sustained response is limited by acquired resistance. Targeting the transcriptional coactivators required for estrogen receptor activity represents an alternative approach that is not subject to the same limitations as targeting estrogen receptor itself. In this report we demonstrate that the acetyltransferase activity of coactivator paralogs CREBBP/EP300 represents a promising therapeutic target in ER+ BC. Using the potent and selective inhibitor CP

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Bertulfo, Kalay, Hannah Miller, Ryan Najac, et al. "Crebbp Inhibition Potentiates JAK2 Inhibition in Post-MPN Acute Myeloid Leukemia." Blood 144, Supplement 1 (2024): 823. https://doi.org/10.1182/blood-2024-201988.

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Post-MyeloProliferative Neoplasm Acute Myeloid Leukemia (Post-MPN AML) is an aggressive and lethal hematologic malignancy arising from myeloproliferative neoplasms. Currently, there is no standard of care treatment for post-MPN AML patients, with allogeneic stem cell transplantation being the only curative option. However, the advanced age and comorbidities of post-MPN AML patients render them unfit for allo-SCT, emphasizing the urgent unmet need to find novel treatment for this disease. Hyperactivation of JAK/STAT signaling is highly prevalent in post-MPN AML pathogenesis, with as much as 50-

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Mullighan, Charles, Jinghui Zhang, Lawryn H. Kasper, et al. "CREBBP Mutations In Relapsed Acute Lymphoblastic Leukemia." Blood 116, no. 21 (2010): 413. http://dx.doi.org/10.1182/blood.v116.21.413.413.

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Abstract Abstract 413 Relapsed acute lymphoblastic leukemia (ALL) is a leading cause of death due to disease in young people, but the biologic determinants of treatment failure remain poorly understood. To identify novel sequence mutations contributing to relapsed in ALL, we resequenced 300 genes in matched diagnosis and relapse samples from 23 patients with ALL. The cohort included B-progenitor ALL with high hyperdiploidy (N=3), TCF3-PBX1 (N=1), ETV6-RUNX1 (N=3), rearrangement of MLL (N=3), BCR-ABL1 (N=3), and low hyperdiploid, pseudodiploid, or miscellaneous karyotypes (N=10). This identifie

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Schroers-Martin, Joseph G., Joanne Soo, Gabriel Brisou, et al. "Recurrent Crebbp Mutations in Follicular Lymphoma Appear Localized to the Committed B-Cell Lineage." Blood 136, Supplement 1 (2020): 30–31. http://dx.doi.org/10.1182/blood-2020-142761.

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Background: Follicular lymphoma (FL) is genetically characterized by translocations involving the BCL2 locus on chromosome 18q21. However, up to 70% of healthy individuals also carry detectable t(14;18)-positive cells, suggesting BCL2 translocation is critical but not sufficient for FL development. Chromatin modifying genes (CMGs) including KMT2D, CREBBP, EZH2, and EP300 are almost ubiquitously mutated in FL. We previously reported the direct characterization by ultra-deep sequencing of pre-diagnostic blood and tissue specimens from 19 subjects who ultimately developed FL. CREBBP lysine acetyl

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Lazaro‐Navarro, Juan, Clara Alcon, Mathurin Dorel, et al. "Inhibiting H3K27 Demethylases Downregulates CREB‐CREBBP, Overcoming Resistance in Relapsed Acute Lymphoblastic Leukemia." Cancer Medicine 14, no. 1 (2025): 1–7. https://doi.org/10.1002/cam4.70596.

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ABSTRACTBackgroundCREB binding protein (CREBBP) is a key epigenetic regulator, altered in a fifth of relapsed cases of acute lymphoblastic leukemia (ALL). Selectively targeting epigenetic signaling may be an effective novel therapeutic approach to overcome drug resistance. Anti‐tumor effects have previously been demonstrated for GSK‐J4, a selective H3K27 histone demethylase inhibitor, in several animal models of cancers.MethodsTo characterize the effect of GSK‐J4, drug response profiling, CRISPR‐Dropout Screening, BH3 profiling and immunoblotting were carried out in ALL cell lines or patient d

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Haase, Jacob, Talia A. Gebhard, Qi Liu, et al. "Abstract 3068: CREBBP/EP300 disruption promotes tumor progression and confers synthetic lethality in anaplastic thyroid cancers." Cancer Research 83, no. 7_Supplement (2023): 3068. http://dx.doi.org/10.1158/1538-7445.am2023-3068.

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Abstract Anaplastic thyroid cancers (ATC) are fast-growing, undifferentiated tumors and almost invariably fatal, primarily due to the lack of effective therapeutic options. The recent approval of dabrafenib plus trametinib for the treatment of BRAFV600E-mutant ATCs improved the prognosis of a subset of patients, but ineligibility and acquired resistance still limit their use. Overall, ATC patients remain in great need of tailored therapeutic options. We previously showed that loss-of-function alterations targeting histone acetyltransferase (HAT) genes, namely CREBBP and EP300, occur in 15-20%

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Sima, Aurora, Roxana Elena Smădeanu, Anca Angela Simionescu, Florina Nedelea, Andreea-Maria Vlad, and Cristina Becheanu. "Menke–Hennekam Syndrome: A Literature Review and a New Case Report." Children 9, no. 5 (2022): 759. http://dx.doi.org/10.3390/children9050759.

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Background: Menke–Hennekam syndrome (MHS) is a rare and recently described syndrome consecutive to the variants in exon 30 or 31 in CREBBP (CREB-binding protein gene). The CREB-binding protein (CREBBP) and EP300 genes are two commonly expressed genes whose products possess acetyltransferase activity for histones and various other proteins. Mutations that affect these two genes are known to cause Rubinstein–Taybi syndrome (RTS); however, with the application of whole exome sequencing (WES) there were reports of variants that affect specific regions of exon 30 or 31 of these two genes but withou

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Melanie, Schoof, Gefion Dorothea Epplen, Carolin Walter, et al. "MODL-11. The tumor suppressor CREBBP and the oncogene MYCN cooperate to induce malignant brain tumors in mice." Neuro-Oncology 24, Supplement_1 (2022): i170—i171. http://dx.doi.org/10.1093/neuonc/noac079.634.

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Abstract CREBBP (cAMP response element-binding protein binding protein) and MYCN (v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog), two essential proteins in central nervous system development that are described to be genetically altered in the same brain tumor entities, such as high grade glioma or medulloblastoma. Therefore, we hypothesized that alterations in both genes cooperate to induce brain tumor formation. In order to investigate molecular mechanisms and potential tumor formation, we established a novel mouse model combining a deletion of Crebbp with an overe

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Derheimer, Frederick A., Ninvita Givarkes, Natalie Miller, et al. "Abstract LB028: Discovery and characterization of selective heterobifunctional degraders of EP300 in hematopoietic malignancies." Cancer Research 84, no. 7_Supplement (2024): LB028. http://dx.doi.org/10.1158/1538-7445.am2024-lb028.

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Abstract The paralogous histone acetyltransferases EP300 and CREBBP are two of the master regulators of transcription by controlling both enhancer and promoter activity through histone and non-histone acetylation. EP300 and CREBBP activity is primarily driven by their acetylation of K27 and K18 on histone H3 leading to open and active chromatin state. Targeting the EP300/CREBBP axis of chromatin regulation may be a way to disrupt the signaling pathways downstream of key oncogenic signaling networks like MYC/IRF4 in hematopoietic cancers. Successful development of dual EP300/CREBBP BRDi and HAT

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Wijetunga, N. Ari, Emily Lebow, Alexander Chan, et al. "Genetic Alterations of Follicular Lymphoma Can Predict Response to Very Low Dose Radiotherapy." Blood 142, Supplement 1 (2023): 6099. http://dx.doi.org/10.1182/blood-2023-185338.

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Introduction Follicular lymphoma (FL) is typically indolent, but relapses and transformation to higher grade disease are common. FL is often radiosensitive and can show complete response (CR) even to very low dose radiotherapy (VLDRT, 4Gy). There are no known genetic markers of FL radiosensitivity. We sought to identify molecular signatures of FL radiosensitivity to aid in patient selection for VLDRT. Methods We analyzed our institutional database and identified 110 FL patients with 113 tumors treated with radiotherapy (RT) and preexisting MSK-IMPACT, a targeted exon sequencing panel. For each

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Dougherty, Bonnie V., Beatrice C. Thomas, Alice M. Walsh, et al. "Abstract 6544: Targeting resistance mechanisms to AR-targeted therapy in prostate cancer through inhibition of CREBBP/EP300." Cancer Research 84, no. 6_Supplement (2024): 6544. http://dx.doi.org/10.1158/1538-7445.am2024-6544.

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Abstract Standard initial treatment for men with metastatic prostate cancer involves targeting the androgen receptor (AR) with androgen deprivation therapy or androgen-receptor signaling inhibitors. Resistance eventually develops, such as through AR-activating alterations, leaving few targeted options for patients. Here, we utilize data from 4,509 prostate cancer patients with longitudinal clinical and DNA/RNA sequencing data to elucidate mechanisms of resistance and identify potential therapeutic vulnerabilities in resistant disease. By constructing comprehensive regulatory networks, termed h

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Camos, Mireia, Jordi Esteve, Pedro Jares, et al. "Gene Expression Profile of Acute Myeloid Leukemia (AML) with t(8;16)(p11;p13) and MYST3/CREBBP Rearrangement." Blood 104, no. 11 (2004): 2054. http://dx.doi.org/10.1182/blood.v104.11.2054.2054.

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Abstract Translocation t(8;16)(p11;p13) is an infrequent chromosomal abnormality in de novo and secondary AML cases, leading to the fusion of MYST3 (MOZ) and CREBBP (CBP) genes, both of them harboring histone lysine acetyl-transferase activity. This AML variety displays specific clinical and biological features, although its gene expression profile is currently unknown. In this study, the genetic signature of AML cases with MYST3/CREBBP rearrangement was compared with the genetic profile of other well-defined AML subtypes. Genotypic analyses using oligonucleotide U133A arrays (Affymetrix) were

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Bruno Marcelo Rocha Freire. "Identificação da fusão gênica MYST3-CREBBP em crianças com LMA e hemofagocitose." Revista Científica Hospital Santa Izabel 1, no. 4 (2020): 42–44. http://dx.doi.org/10.35753/rchsi.v1i4.167.

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LMA apresenta uma translocação (8;16) (p11; p13) que gera a fusão gênica MYST3-CREBBP, que é mais comumente vista em adultos. Essa translocação (8;16) (p11; p13) está associada à idade precoce, diferenciação monocítica e hemofagocitose e sendo indicativo de pior prognóstico. Método: série de 266 casos de LMA em pacientes pediátricos no período de 2003 a 2012. Foram incluídas crianças com menos de 2 anos de idade, com LMA e presença de hemofagocitose. Foram incluídos 48 casos de LMA sem hemofagocitose. O método de hibridização fluorescente in situ (FISH) para os rearranjos MLL foi realizado ao

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Gotti, Giacomo, Daniela Silvestri, Grazia Fazio, et al. "Crebbp Mutations Are Associated with Slow Minimal Residual Response to Upfront Induction Chemotherapy in Pediatric High-Hyperdiploid B-Cell Precursor Acute Lymphoblastic Leukemia Treated in the AIEOP-BFM ALL 2009 Protocol." Blood 142, Supplement 1 (2023): 4344. http://dx.doi.org/10.1182/blood-2023-187833.

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Introduction High-hyperdiploidy (HHD) represents the most common cytogenetic abnormality found in B-cell precursor acute lymphoblastic leukemia (B-ALL). Despite the overall good outcome of this entity, up to 15% of patients suffer from disease relapse. Genome-wide ALL studies with next-generation sequencing (NGS) approaches identified a distinct pattern of somatic mutations in HHD ALL, enriched in mutations occurring in genes activating the RAS pathway and in CREBBP gene, especially in relapsed patients. Although several studies have attempted to explore the prognostic significance of these mu

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Green, Michael R., Shingo Kihira, Chih Long Liu, et al. "Mutations in early follicular lymphoma progenitors are associated with suppressed antigen presentation." Proceedings of the National Academy of Sciences 112, no. 10 (2015): E1116—E1125. http://dx.doi.org/10.1073/pnas.1501199112.

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Follicular lymphoma (FL) is incurable with conventional therapies and has a clinical course typified by multiple relapses after therapy. These tumors are genetically characterized by B-cell leukemia/lymphoma 2 (BCL2) translocation and mutation of genes involved in chromatin modification. By analyzing purified tumor cells, we identified additional novel recurrently mutated genes and confirmed mutations of one or more chromatin modifier genes within 96% of FL tumors and two or more in 76% of tumors. We defined the hierarchy of somatic mutations arising during tumor evolution by analyzing the phy

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Marchetti, Giulia Bruna, Donatella Milani, Livia Pisciotta, et al. "The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene." Genes 15, no. 6 (2024): 654. http://dx.doi.org/10.3390/genes15060654.

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Rubinstein–Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, facial dysmorphisms, and enlarged thumbs and halluces. Approximately 55% of RTS cases result from pathogenic variants in the CREBBP gene, with an additional 8% linked to the EP300 gene. Given the close relationship between these two genes and their involvement in epigenomic modulation, RTS is grouped into chromatinopathies. The extensive clinical heterogeneity observed in RTS, coupled with the growing number of disorders involving the epigenetic machinery, poses a challenge to a phenotype-based

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Zhou, Ting, Stephanie N. Zimmer, Ziming Cheng, and Vivienne I. Rebel. "Myelodysplastic/Myeloproliferative Neoplasm in Crebbp+/− Mice Is a Transplantable Disease in Which Multiple Hematopoietic Cell Populations Are Involved, As Well As the Microenvironment." Blood 120, no. 21 (2012): 1705. http://dx.doi.org/10.1182/blood.v120.21.1705.1705.

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Abstract Abstract 1705 Myelodysplastic/myeloproliferative neoplasms (MDS/MPNs) are myeloid malignancies that display features of both MDS and MPN, but cannot be properly assigned to either MDS or MPN. It is currently not known whether it originates from the hematopoietic stem cell (HSC) compartment (like MDS), from a more committed myeloid progenitor population, or a combination thereof. Fifteen to 40% of MDS/MPN patients develop acute myeloid leukemia (AML); whether the transformation occurs in a particular cell population is also unknown. We previously demonstrated that mice heterozygous for

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Sokol, Ethan, Smruthy Sivakumar, Brennan Decker, Jeffrey Ross, and Priti Hegde. "Abstract P5-13-02: Serially biopsied BRCA1/2 mutant breast tumors frequently acquire alterations in BRCA1, BRCA2, and CREBBP." Cancer Research 82, no. 4_Supplement (2022): P5–13–02—P5–13–02. http://dx.doi.org/10.1158/1538-7445.sabcs21-p5-13-02.

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Abstract Introduction Tumors with alterations in BRCA1 or BRCA2 (BRCAm) are sensitive to poly ADP ribose polymerase inhibitors (PARPi), with significant benefit in ovary, breast, prostate, and pancreatic cancers. Despite strong early responses on PARPi, many patients eventually exhibit relapse. Previous literature has identified BRCA1/2 reversion as a common class of acquired alteration in the resistance setting; however, additional resistance pathways have not been well characterized. Here, we examined 100 BRCAm patients who were profiled with serial biopsy during clinical care to identify po

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Zhang, Hui, Maoxiang Qian, Shirley, Kow Yin Kham, et al. "Whole Transcriptome Sequencing Identified a Distinct Subtype of Acute Lymphoblastic Leukemia with Abnormalities of CREBBP and EP300." Blood 128, no. 22 (2016): 3912. http://dx.doi.org/10.1182/blood.v128.22.3912.3912.

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Abstract While acute lymphoblastic leukemia (ALL) is a prototype of cancer that can be cured by chemotherapy alone, current ALL treatment regimens rely primarily on conventional cytotoxic agents with significant acute and long-term side effects. Better understanding of genomic landscape of ALL is critical for developing molecularly targeted therapy and implementing genomics-based precision medicine in this cancer. In particularly, sentinel chromosomal translocations are common in ALL and often involve key transcription factors important for hematopoiesis. Epigenetic regulator genes are also fr

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Pasqualucci, Laura, David Dominguez-Sola, Annalisa Chiarenza, et al. "Genome-Wide Analysis Reveals Frequent Inactivating Mutations of Acetyltransferase Genes In B-Cell Lymphoma." Blood 116, no. 21 (2010): 474. http://dx.doi.org/10.1182/blood.v116.21.474.474.

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Abstract Abstract 474 B cell non-Hodgkin lymphoma (B-NHL) comprises a variety of biologically and clinically distinct diseases whose pathogenesis is associated with largely unique genetic lesions affecting oncogenes and tumor suppressor genes. The identification of the complete set of genes and cellular pathways that are altered in the lymphoma cell is critical for a full understanding of the genesis and maintenance of these malignancies. Using genome-wide copy number analysis and high throughput whole exome sequencing, we have recently found that the two most common types of B-NHL, follicular

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Cortopassi, Wilian A., Kiran Kumar та Robert S. Paton. "Cation–π interactions in CREBBP bromodomain inhibition: an electrostatic model for small-molecule binding affinity and selectivity". Organic & Biomolecular Chemistry 14, № 46 (2016): 10926–38. http://dx.doi.org/10.1039/c6ob02234k.

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Tokunaga, Kenji, Shunichro Yamaguchi, Taizo Shimomura, et al. "Accumulation Of Gene Alterations Of TP53, Crebbp and IKZF1 Is a Prognostic Factor In Adult Acute Lymphoblastic Leukemia." Blood 122, no. 21 (2013): 1386. http://dx.doi.org/10.1182/blood.v122.21.1386.1386.

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Abstract Aims Mutations of the genes associating with cell differentiation or proliferation are recognized as factors of tumorigenesis or prognosis in hematological malignancies. In pediatric acute lymphoblastic leukemia (ALL), alterations of IKZF1 (a factor of lymphocyte differentiation), TP53 (a cell cycle regulator) and CREBBP (a histone modifier) are found as possible prognostic markers for stratification of treatments. On the other hand, in adult ALL, clinical significance of such alterations remains to be determined. In the present work, we examined whether the mutations in those genes a

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Mosquera Orgueira, Adrián, Roi Ferreiro Ferro, José Ángel Díaz Arias, et al. "Detection of new drivers of frequent B-cell lymphoid neoplasms using an integrated analysis of whole genomes." PLOS ONE 16, no. 5 (2021): e0248886. http://dx.doi.org/10.1371/journal.pone.0248886.

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B-cell lymphoproliferative disorders exhibit a diverse spectrum of diagnostic entities with heterogeneous behaviour. Multiple efforts have focused on the determination of the genomic drivers of B-cell lymphoma subtypes. In the meantime, the aggregation of diverse tumors in pan-cancer genomic studies has become a useful tool to detect new driver genes, while enabling the comparison of mutational patterns across tumors. Here we present an integrated analysis of 354 B-cell lymphoid disorders. 112 recurrently mutated genes were discovered, of which KMT2D, CREBBP, IGLL5 and BCL2 were the most frequ

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Zhang, Lingling, Oscar Atkins, Miu Shing Hung, Hans Christian Reinhardt, and Dinis Pedro Parente Calado. "Abstract PR03: Immunosurveillance of precancerous germinal center B cells." Blood Cancer Discovery 5, no. 3_Supplement (2024): PR03. http://dx.doi.org/10.1158/2643-3249.lymphoma24-pr03.

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Abstract Most Non-Hodgkin Lymphomas (NHLs) originate from germinal center (GC) or post-GCB cells. While the immune system actively targets precancerous cells in epithelial-derived cancers, it is uncertain if the same applies to precancerous GCB cells. Knowledge on Follicular Lymphoma (FL), the most common low-grade NHL derived from GCB cells, prompted us to develop novel mouse models to mimic the precancerous state. In FL, BCL2 translocation and CREBBP loss-of-function (LoF) mutations are characteristic of a precancerous state. These mutations can be detected years before FL diagnosis, hinting

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dos Anjos, Laura G., Daniela Bizinelli, and Katia C. Carvalho. "Abstract 6021: Genetic and epigenetic features OF KMT2D, CREBBP, ATM, TSC2 and GNAS in uterine leyomiosarcomas." Cancer Research 83, no. 7_Supplement (2023): 6021. http://dx.doi.org/10.1158/1538-7445.am2023-6021.

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Abstract Background: Uterine leiomyosarcoma (LMS) comprises 60% to 70% of the uterine sarcoma (US). These tumors present high rates of recurrence and metastasis, and the patients’ survival rates are very low (20% in five years). It is known that somatic mutations and modifications in the DNA methylation levels are associated with several types of neoplasms. Previously, our group identified missense and loss of function mutations in KMT2D, CREBBP, ATM, TSC2, and GNAS, using a genetic screening method in LMS samples. Based on these results, we decided to investigate whether a genetic and epigene

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Li, Jie, Christopher Chin, Hsia-Yuan Ying, et al. "Cooperative Super-Enhancer Inactivation through Loss of Crebbp and KMT2D Skews B Cell Fate Decisions and Yields T Cell-Depleted Lymphomas." Blood 142, Supplement 1 (2023): 2776. http://dx.doi.org/10.1182/blood-2023-174501.

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Mutations in chromatin modifiers are a hallmark of many tumors, especially lymphomas arising from germinal center (GC) B cells. Given that most of these lymphoma mutations induce aberrant gene repression, it is surprising that they often co-occur in individual patients. The most common pairing are mutations affecting CREBBP and KMT2D, even though regulating overlapping gene enhancers and pathways. Hence their co-occurrence is especially puzzling. Herein, we report that combined haploinsufficiency of Crebbp and Kmt2d (C+K) do indeed induce a more severe lymphoma phenotype (vs either allele alon

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Los-de Vries, G. Tjitske, Wendy B. C. Stevens, Erik van Dijk, et al. "Genomic and microenvironmental landscape of stage I follicular lymphoma, compared with stage III/IV." Blood Advances 6, no. 18 (2022): 5482–93. http://dx.doi.org/10.1182/bloodadvances.2022008355.

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Abstract Although the genomic and immune microenvironmental landscape of follicular lymphoma (FL) has been extensively investigated, little is known about the potential biological differences between stage I and stage III/IV disease. Using next-generation sequencing and immunohistochemistry, 82 FL nodal stage I cases were analyzed and compared with 139 FL stage III/IV nodal cases. Many similarities in mutations, chromosomal copy number aberrations, and microenvironmental cell populations were detected. However, there were also significant differences in microenvironmental and genomic features.

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Zhao, Haifeng, Yutian Kan, Xinyuan Wang, Leiyuan Chen, Peng Ge, and Zhengzi Qian. "Genetic polymorphism and transcriptional regulation of CREBBP gene in patient with diffuse large B-cell lymphoma." Bioscience Reports 39, no. 8 (2019). http://dx.doi.org/10.1042/bsr20191162.

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Abstract In the present study, we aim to examine the relationship between genetic polymorphism and transcriptional expression of cyclic AMP response element binding protein (CREBBP) and the risk of diffuse large B-cell lymphoma (DLBCL). Two hundred and fifty healthy individuals and 248 DLBCL patients participated in the present study. The CREBBP rs3025684 polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The mRNA expression of CREBBP was tested by the real-time quantitative PCR (RT-qPCR). The allele A frequency of CREBBP rs3025684 in DL

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