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: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 AlteredExpression disease BEFREE SS treated A431 and SAS cells showed upregulation of p53 and dysregulation of Bax and Bcl-2 gene expression. 30391273 2019
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 PosttranslationalModification disease BEFREE Quisinostat inhibits aggresome formation in response to proteasome inhibition, and combination treatment leads to elevated endoplasmic reticulum stress, activation of pro-apoptotic effector proteins BIM and BIK, phosphorylation of BCL-2, increased levels of reactive oxygen species, and suppression of tumor growth in a murine model of synovial sarcoma. 28056055 2017
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 AlteredExpression disease BEFREE Thus, the contributory role of BCL2 in synovial sarcomagenesis does not appear to render it as a therapeutic target, but mitochondrial antiapoptotic BCL2 family members may be.<b>Implications:</b> The association of BCL2 expression with synovial sarcoma is found to fit with a subtle, but significant, impact of its enhanced presence or absence during early tumorigenesis. 28851813 2017
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 Biomarker disease BEFREE Forty monophasic spindle cell type (58.8%), 13 biphasic (19.1%), 12 poorly differentiated (17.6%) and three calcifying SSs (4.4%) were positive for epithelial membrane antigen (EMA) (46/62) (74.1%), pan cytokeratin (AE1/AE3) (31/47) (65.9%), cytokeratin (CK7) (20/31) (64.5%), BCL2 (62/66) (93.9%), MIC2 (61/63) (96.8%), transducin-like enhancer of split 1 (TLE1) (29/31) (93.5%) and CK19 (14/24) (58.3%). 25912315 2015
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 AlteredExpression disease BEFREE Elevated expression of BCL2 is considered a consistent feature of the synovial sarcoma expression profile. 22797074 2013
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 Biomarker disease BEFREE A large necrotic tumour positive for CK 22, EMA, CD 99 and BCL-2 but negative for translocation in COBRA-FISH analysis by break-apart probe could be excised and revealed a very rare subtype of synovial sarcoma metastasis arising from the endocard of the left atrium. 21425056 2012
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 Biomarker disease BEFREE Treatment with antisense BCL2 (G3139) may therefore represent an appropriate alternative therapy for patients with BCL2-positive synovial sarcomas. 19602458 2009
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 Biomarker disease BEFREE In summary, avicin D selectively induced apoptosis, inhibited STAT-3 activation, and decreased apoptosis inhibitors (bcl-2 and survivin) in CTCL cell lines and SS patients' Sézary cells. 18496567 2008
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 AlteredExpression disease BEFREE Treatment of FU-SY-1 SS with G3139 reduced Bcl-2 mRNA and protein levels, which enhanced doxorubicin-induced cell killing. 16450387 2006
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 Therapeutic disease CTD_human Treatment of FU-SY-1 SS with G3139 reduced Bcl-2 mRNA and protein levels, which enhanced doxorubicin-induced cell killing. 16450387 2006
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 AlteredExpression disease BEFREE The SYT-SSX fusion protein that results from the X,18 translocation is an appealing target, as are the proteins overexpressed in synovial sarcoma: bcl-2, EGFR, and HER-2/neu. 15838395 2005
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 Biomarker disease BEFREE Most SS were strongly positive for bcl-2 (91% of MFSS, 92% of PDSS) and CD99 (91% of MFSS, 100% of PDSS). 12409719 2002
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 AlteredExpression disease BEFREE Synovial sarcoma had a significantly higher expression of Bcl-2 protein, and lower incidence of apoptosis. 11867201 2002
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 AlteredExpression disease BEFREE Four of 19 synovial sarcomas (21%) demonstrated nuclear over-expression of p53 protein; 18 of 19 tumors (94%) stained positive for Bcl-2; and 13 of 19 tumors (68%) were immunoreactive with EGFR. 12458341 2002
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 AlteredExpression disease BEFREE Interestingly, whereas bcl2 over-expression appears to be restricted to the spindle cell tumoral component, c-kit mainly involves the epithelial component of biphasic SS. 11487273 2001
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.400 AlteredExpression disease BEFREE In addition to these cytogenetic changes, bcl-2 expression, as assessed by immunohistochemistry, has been reported to be an almost general constitutive alteration of SS. 10879732 2000