CBFB, core-binding factor subunit beta, 865

N. diseases: 76; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721505
Disease: Sarcoma, Myeloid
Sarcoma, Myeloid
0.010 GeneticVariation disease BEFREE Our current series, combined with a literature review, identifies a compelling series of 31 (94%) of 33 cases of myeloid sarcoma with CBFB-MYH11 fusion showing a marked predilection for abdominal sites. 31671434 2020
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.010 AlteredExpression disease BEFREE CBFβ expression was lower in HBV patients than in healthy persons, and the addition of serum from HBV patients inhibited CBFβ expression in HepG2 cells. 29523836 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE These data establish CBFβ as a mediator of CDK11<sup>p110</sup> dependent oncogenesis and suggest that targeting the CDK11- CBFβ pathway may be a promising therapeutic strategy for osteosarcoma treatment. 31610798 2019
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.010 Biomarker disease BEFREE We found that circ-CBFB knockdown significantly suppressed CLL cell proliferation, arrested cell cycle progression, and induced cellular apoptosis. 29902450 2018
CUI: C0033027
Disease: Preleukemia
Preleukemia
0.010 AlteredExpression disease BEFREE In this review, we will discuss the current understanding of inv(16) preleukemia development, and the function of CBFβ-SMMHC related to preleukemia progression and LIC activity. 29755956 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 Biomarker disease BEFREE This study investigates the effects of chemical inhibition of the CBFβ/RUNX protein-protein interaction on ovarian cancer cell lines. 29551565 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 Biomarker disease BEFREE This study investigates the effects of chemical inhibition of the CBFβ/RUNX protein-protein interaction on ovarian cancer cell lines. 29551565 2018
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.010 AlteredExpression group BEFREE In this review, we will discuss the current understanding of inv(16) preleukemia development, and the function of CBFβ-SMMHC related to preleukemia progression and LIC activity. 29755956 2018
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 Biomarker disease BEFREE This study investigates the effects of chemical inhibition of the CBFβ/RUNX protein-protein interaction on ovarian cancer cell lines. 29551565 2018
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
0.010 Biomarker group BEFREE Clinical Relevance of RUNX1 and CBFB Alterations in Acute Myeloid Leukemia and Other Hematological Disorders. 28299658 2017
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.010 Biomarker disease BEFREE The co-expression of p<sup>210BCR-ABL</sup> and <i>CBFβ-MYH11</i> fusion genes in myeloid leukemia may be a molecular event occurring not only during the development of CML, but also in AML. 29151902 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.010 AlteredExpression disease BEFREE We also concomitant monitoring of fusion transcripts (PML RARa, AML1-ETO, MLL-MLL, CBFb-MYH11, or DEK-CAN) in our patients, the AML1-ETO group showing remarkably low levels of WT1 compared with other fusion transcript and the CBFB-MYH11 showing high levels of WT1. 28567073 2017
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.010 Biomarker disease BEFREE Our results show that, besides its osteogenic role, Cbfβ governs osteoblast-adipocyte lineage commitment both cell nonautonomously through enhancing β-catenin signaling and cell autonomously through suppressing adipogenesis gene expression to maintain osteoblast lineage commitment, indicating Cbfβ may be a therapeutic target for osteoporosis. 28864530 2017
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia
0.010 GeneticVariation disease BEFREE Real-time quantitative reverse transcription polymerase chain reaction (RT-qPCR)-based detection of abnormal fusion transcripts is an important strategy for the diagnosis and monitoring of patients with acute myeloid leukemia (AML) with t(8;21)(q22;q22); RUNX1-RUNX1T1, inv(16)(p13.1;q22); CBFB-MYH11 or t(15;17)(q22;q12); PML-RARA. 28735486 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.010 Biomarker group BEFREE Mutations in RUNX1 and CBFB have long been recognized as important in hematological malignancies. 28299663 2017
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.010 Biomarker disease BEFREE We demonstrate that a small molecule inhibitor, designed to interfere with CBFβ binding to RUNX proteins, impairs the growth of human T-ALL cell lines and primary patient samples. 28790107 2017
CUI: C0279563
Disease: Lobular carcinoma in situ of breast
Lobular carcinoma in situ of breast
0.010 GeneticVariation disease BEFREE The constellation of somatic mutations found in LCIS (n = 34) and ILC (n = 21) were similar, with the most frequently mutated genes being CDH1 (56% and 66%, respectively), PIK3CA (41% and 52%, respectively) and CBFB (12% and 19%, respectively). 26643573 2016
CUI: C0279565
Disease: Invasive Lobular Breast Carcinoma
Invasive Lobular Breast Carcinoma
0.010 GeneticVariation disease BEFREE The constellation of somatic mutations found in LCIS (n = 34) and ILC (n = 21) were similar, with the most frequently mutated genes being CDH1 (56% and 66%, respectively), PIK3CA (41% and 52%, respectively) and CBFB (12% and 19%, respectively). 26643573 2016
Myeloid leukemia associated with Down Syndrome
0.010 GeneticVariation disease BEFREE The most common subgroups were KMT2A rearrangement (29%), normal karyotype (15%), RUNX1-RUNX1T1 (10%), deletions of 5q, 7q and/or 17p (9%), myeloid leukaemia associated with Down syndrome (7%), PML-RARA (7%) and CBFB-MYH11 (5%). 27022003 2016
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 GeneticVariation group BEFREE We also observe somatic ELF3 (13%) and CBFB (8%) mutations in 24 adenocarcinomas. 24390348 2014
CUI: C0026499
Disease: Monosomy
Monosomy
0.010 GeneticVariation group BEFREE We report a case of acute myeloid leukemia with a balanced t(16;16)(p13;q22) and additional monosomy 13 showing a new CBFB-MYH11 fusion transcript variant. 24342433 2014
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.010 Biomarker group BEFREE Vif proteins of human and simian immunodeficiency viruses require cellular CBFβ to degrade APOBEC3 restriction factors. 22205746 2012
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.010 GeneticVariation disease BEFREE The mutation is also frequently detected in core-binding factor acute myeloid leukemia (CBF AML) defined by the presence of t(8;21)(q22;q22); RUNX1-RUNX1T1 or inv(16)(p13.1;q22)/t(16;16)(p13.1;q22); CBFB-MYH11 chromosomal rearrangements, but whether the mutation is indicative of associated SM is unclear. 22145956 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE These data collectively suggest that CBFβ is required for malignancy in some human cancers. 20607802 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 Biomarker disease BEFREE Dysregulation of the transcription factors SOX4, CBFB and SMARCC1 correlates with outcome of colorectal cancer. 19156145 2009