BCL2, BCL2 apoptosis regulator, 596

N. diseases: 1456; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE Therefore the FISH assay in tissue was found to be very sensitive in detection of IGH/BCL2 translocation and was helpful in diagnosis of follicular lymphoma or in clarification of the cell origin of lymphoma when karyotype analysis was not available. 12953811 2003
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE bcl-2 gene rearrangement in salivary gland lymphoma. 2252103 1990
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE Rearrangement of bcl-2 was observed in 28 of 37 (75.7%) patients with mixed cryoglobulinemia (65% of those with type III disease and 85% of those with type II disease, including 3 of 4 patients with lymphoma) and in 38 of 101 (37.6%) patients with chronic HCV infection but not mixed cryoglobulinemia (P < 0.001). 12353944 2002
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE We investigated whether the lymphoma-associated t(14;18) involving the BCL2 oncogene can occur outside the context of malignancy. 7727781 1995
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE Both primary breast lymphoma and lymphoma with concurrent BCL2-IGH and MYC translocations are rare and are primarily seen in adult patients. 21491965 2012
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE Molecular cytogenetic investigation is essential to identify cases of high-grade leukaemia/lymphoma with concurrent translocations affecting the BCL2 and MYC loci. 15716988 2005
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE Our data support the notion that among gastrointestinal MALT lymphomas, t(14;18)-(IgH;Bcl-2) translocation clusters in HCV-positive patients sustaining the role of HCV infection in the lymphoma development. 18538438 2008
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE Breakpoints of a lymphoma case with bcl-2 gene rearrangement that did not show comigration of immunoglobulin (Ig) heavy chain joining (JH) fragment were cloned. 1900270 1991
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE To determine the utility of Southern blot analysis for fine-needle aspiration samples, the authors prospectively analyzed immunoglobulin, T-cell receptor, c-myc, and bcl-2 gene rearrangements in 27 cases of known or suspected lymphoma. 2189291 1990
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE The most common translocation in human lymphoma, t(14;18)(q32;q21), recombines the bcl-2 gene with the immunoglobulin (Ig) heavy-chain locus leading to the production of high levels of chimeric RNAs and the resulting 26 kDa bcl-2 protein. 8558921 1996
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE To better understand the mechanisms underlying the role of the immunoglobulin heavy-chain gene (IgH) 3' enhancers on bcl-2 transcriptional deregulation in t(14;18) lymphoma, we characterized the physical interactions of the IgH 3' enhancer region with the bcl-2 promoters. 18695675 2008
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE Lymphoma viability remained unaffected by the genetic deletion or pharmacological inhibition of all alternative BCL-2 family members. 27055871 2016
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE Our data showed that despite the relative infrequency of follicular lymphomas in the Turkish population these lymphomas share a common molecular pathogenesis with involvement of bcl-2 gene and background incidence of such rearrangement is similar in all populations, regardless the incidence of folicular lymphoma. 10781680 2000
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE Double-hit lymphoma (DHL) is defined as lymphoma with concurrent BCL2 and MYC translocations. 29310838 2018
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE The latter parameters and IPI were the only ones with independent prognostic value (RR = 10, 5.0, 6.7, and 3.7, respectively; P < 0.001) when assessed together with lymphoma sub-type, primary versus relapse cases, treatment, B symptoms, S phase fraction, and presence of BCL1 and BCL2 translocations. 11747333 2001
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE Functional Implications of the spectrum of BCL2 mutations in Lymphoma. 27543313 2017
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE To study the BCL2 amplification we performed comparative genomic hybridization (CGH), Southern blot hybridization, Western analysis, immunohistochemistry, metaphase fluorescence in situ hybridization, and chromosome analysis on 26 cases of diffuse large B-cell lymphoma (large noncleaved cell lymphoma). 9242549 1997
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE Quantitative variation in human BCL2 mutation frequency is extensive, and BCL2 mutation frequency rises with age, concordant with increased risk for lymphoma. 7565870 1995
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE These data indicate that the combined PCR analysis of IgH and BCL2 rearrangements can confirm a cytologic diagnosis of lymphoma in FNAs while, due to the occurrence of both false-positive and false-negative results, it is of limited value in the distinction between follicular lymphoma and lymphoid hyperplasia without morphologic or clinical support. 9276187 1997
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE From these studies it is inferred that secondary dysregulation of a c-MYC in a lymphoma tumor carrying dysregulated BCL2 gene leads to rapid progression to high grade disease. 1992441 1991
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE All 18 pretransformation follicular lymphoma specimens displayed at least one immunoglobulin gene and BCL-2 rearrangement in common with the corresponding histologically progressed lymphoma, indicating a clonal relationship between the original follicular lymphoma and the histologically transformed lymphoma. 1638027 1992
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE The bcl-2-MBR gene rearrangement may possibly be associated with a shorter disease-free period, particularly in the specific setting of a lymphoma with extranodal presentation. 8270971 1994
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE The t(14;18) chromosomal translocation that results in the juxtaposition of the bcl-2 proto-oncogene with the heavy chain JH locus is a common cytogenetic abnormality in human lymphoma. 1884022 1991
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE A case-control study of tobacco use and other non-occupational risk factors for lymphoma subtypes defined by t(14; 18) translocations and bcl-2 expression. 20232134 2010
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.100 GeneticVariation disease BEFREE High grade B-cell lymphoma with rearrangements of MYC and BCL2 and/or BCL6: Double hit and triple hit lymphomas and double expressing lymphoma. 27717585 2017