TRB, T cell receptor beta locus, 6957

N. diseases: 49; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.330 FusionGene disease ORPHANET
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE TCRB gene rearrangement patterns differed between the various categories of T cell malignancies. 10360387 1999
Diabetes Mellitus, Insulin-Dependent
0.030 GeneticVariation disease BEFREE A highly polymorphic microsatellite marker mapping to the TCRBV6.7 gene and a TCRB C-region RFLP were used to genotype the members of a total of 21 multiplex IDDM families from two different geographical areas. 8909943 1996
Precursor B-cell lymphoblastic leukemia
0.010 Biomarker disease BEFREE A large series of 202 childhood precursor-B cell acute lymphoblastic leukemia (ALL) patients was analyzed by Southern blotting (SB) for cross-lineage rearrangements and/or deletions in the T cell receptor TCRB, TCRG and TCRD loci. 10025893 1999
CUI: C0085435
Disease: Arthritis, Reactive
Arthritis, Reactive
0.020 Biomarker disease LHGDN All but one patient-derived conserved sequences originated from acute stage ReA-patients, and were not present among approximately 3800 other human TCRB sequences in the database. 12472659 2002
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous
0.020 Biomarker disease BEFREE Although we found that TCRB gene usage in CTCL and normal individuals share common features, our analysis also revealed preferential usage of Jbeta1 genes in all cases with advanced stages of disease. 16741518 2006
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous
0.020 Biomarker disease LHGDN Although we found that TCRB gene usage in CTCL and normal individuals share common features, our analysis also revealed preferential usage of Jbeta1 genes in all cases with advanced stages of disease. 16741518 2006
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.030 GeneticVariation phenotype BEFREE As expected, HTS of TCRB and TCRG identified MRD that was not detected by flow cytometry in a subset of cases (25 of 35 HTS compared with 13 of 35, respectively), which highlights the potential of this technology to define lower detection thresholds for MRD that could affect clinical treatment decisions. 22593176 2012
CUI: C0026272
Disease: Mixed Connective Tissue Disease
Mixed Connective Tissue Disease
0.010 Biomarker disease LHGDN CD4+ T cells target epitopes residing within the RNA-binding domain of the U1-70-kDa small nuclear ribonucleoprotein autoantigen and have restricted TCR diversity in an HLA-DR4-transgenic murine model of mixed connective tissue disease. 18523312 2008
Eosinophilic granulomatosis with polyangiitis
0.010 Biomarker disease LHGDN Clonal CD8+ TCR-Vbeta expanded populations with effector memory phenotype in Churg Strauss syndrome. 18502180 2008
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.010 Biomarker disease BEFREE Clonal expanded TRA and TRB subfamily T cells in peripheral blood from patients with diffuse large B-cell lymphoma. 20423568 2010
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 Biomarker disease BEFREE Clonal expanded TRA and TRB subfamily T cells in peripheral blood from patients with diffuse large B-cell lymphoma. 20423568 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.050 Biomarker disease LHGDN Clonally expanded CD4+CD28null T cells in rheumatoid arthritis use distinct combinations of T cell receptor BV and BJ elements. 12594835 2003
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
0.010 Biomarker group BEFREE Combined use of PCR-based TCRG and TCRB clonality tests on paraffin-embedded skin tissue in the differential diagnosis of mycosis fungoides and inflammatory dermatoses. 20203005 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 GeneticVariation group BEFREE Dominant Variable (V) and Joining (J) gene pair rearrangements in cancer cells were confirmed by polymerase chain reaction (PCR) amplification and Sanger sequencing; clonality assessment of clinical isolates using BIOMED-2 methods showed agreement for 73% and 77% of samples at the β and γ loci, respectively, whereas β locus V and J allele prevalence in PBMCs were well correlated with results from commercial PCR-based DNA sequencing assays (<i>r</i><sup>2</sup> = 0.94 with Adaptive ImmunoSEQ, 0.77-0.83 with Invivoscribe LymphoTrack TRB Assay). 30530777 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 GeneticVariation group BEFREE Dominant Variable (V) and Joining (J) gene pair rearrangements in cancer cells were confirmed by polymerase chain reaction (PCR) amplification and Sanger sequencing; clonality assessment of clinical isolates using BIOMED-2 methods showed agreement for 73% and 77% of samples at the β and γ loci, respectively, whereas β locus V and J allele prevalence in PBMCs were well correlated with results from commercial PCR-based DNA sequencing assays (<i>r</i><sup>2</sup> = 0.94 with Adaptive ImmunoSEQ, 0.77-0.83 with Invivoscribe LymphoTrack TRB Assay). 30530777 2018
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides
0.050 GeneticVariation group BEFREE Gains of TCRB and TCRG genes were observed in 23% (3 of 13) of SS and 50% (3 of 6) of MFt, reflecting the presence of trisomy and/or tetrasomy of chromosome 7 already detected by conventional cytogenetics and array comparative genetic hybridization techniques. 21872828 2011
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.020 Biomarker disease BEFREE Genetic linkage has been analyzed between cystic fibrosis (CF) and a number of markers on the long arm of chromosome 7, including D7S15, COL1A2, PON, MET, D7S8, and TCRB, using a cohort of 47 Canadian and 13 Danish CF families. 3467587 1986
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 GeneticVariation group BEFREE Genotypic analysis showed that the tumors were B-lineage and clonal, with rearrangements of the Ig heavy- and kappa light-chain loci and no rearrangements of the T-cell receptor beta locus. 9376569 1997
Generalized Thyroid Hormone Resistance
0.010 GeneticVariation disease BEFREE Here we describe in a patient with RTH, a new mutation in codon 426 (T426I) of the TRb gene leading to a threonine to isoleucine substitution. 10660344 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.010 Biomarker disease BEFREE High frequencies of TRGV-BJ hybrid gene (rearrangement between the TRB and TRG loci at 7q35 and 7p14-15, respectively) have been detected in lymphocytes from patients with ataxia telangiectasia (AT), and also in patients with lymphoid malignancies. 19142737 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE High frequencies of TRGV-BJ hybrid gene (rearrangement between the TRB and TRG loci at 7q35 and 7p14-15, respectively) have been detected in lymphocytes from patients with ataxia telangiectasia (AT), and also in patients with lymphoid malignancies. 19142737 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE However, because T-cell malignancies contain identically rearranged T-cell receptor gamma (TCRG) and/or beta (TCRB) genes, the polymerase chain reaction (PCR) can be a fast, convenient, and dependable option to identify clonal T-cell processes. 23666697 2013
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.010 GeneticVariation disease BEFREE If maternal antibody-mediated hypothyroidism is suspected, measurement of maternal and/or neonatal TRB-Ab will confirm the diagnosis. 10447022 1999
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.330 GeneticVariation disease BEFREE In T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL), activating mutations of NOTCH1 are observed in more than 50% of cases, whereas the t(7;9)(q34;q34) involving NOTCH1 at 9q34 and TRB@ at 7q34 is an extremely rare but recurrent translocation. 23033986 2013