| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.060 | GeneticVariation | disease | BEFREE | While homozygous CDKN2A/B loss has been directly associated with Richter transformation, we did not find this association for heterozygous loss of CDKN2A/B. | 31467127 | 2019 | ||||
|
0.060 | Biomarker | disease | BEFREE | Molecular lesions of regulators of tumor suppression (TP53), cell cycle (CDKN2A), and cell proliferation (NOTCH1, MYC) overall account for ~90% of RS and may be responsible for the aggressive clinical phenotype observed in this disease because of the combined effect of chemoresistance and rapid disease kinetics. | 27040710 | 2016 | ||||
|
0.060 | Biomarker | disease | BEFREE | Molecular lesions of tumor suppression regulators (TP53), cell cycle (CDKN2A) and cell proliferation (NOTCH1, MYC) overall account for ∼90% of RS and may be responsible for its aggressive clinical phenotype. | 27742070 | 2016 | ||||
|
0.060 | Biomarker | disease | BEFREE | In particular, disruption of the CDKN2A/B cell cycle regulator is associated with ∼30% of RS cases. | 24127483 | 2013 | ||||
|
0.060 | AlteredExpression | disease | BEFREE | To investigate the role of the cell cycle regulators p21(Waf1), p27(Kip1), retinoblastoma (Rb), and cyclin D1 in Richter's transformation of chronic lymphocytic leukemia (CLL), we analyzed 19 CLL and eight Richter's syndrome (RS) tumors, previously characterized for p53 and ARF/INK4a abnormalities. p21(Waf1)immunohistochemical expression was negative in 12 of 15 CLL (80%), whereas it was moderate or strong in three of seven RS (43%). p21(Waf1) gene was in germline configuration in all the tumors analyzed. | 12040434 | 2002 | ||||
|
0.060 | Biomarker | disease | BEFREE | Sequential samples of the indolent and transformed phase of three cases showed the presence of p16(INK4a) deletions in the Richter's syndrome but not in the CLL component of two cases, whereas in a follicular lymphoma the deletion was present in both the follicular tumor and in the diffuse large-cell lymphoma. | 9531609 | 1998 |