NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Richter's syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		0.100 Biomarker disease BEFREE Bidirectional linkage between the B-cell receptor and NOTCH1 in chronic lymphocytic leukemia and in Richter's syndrome: therapeutic implications. 31467429 2020
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		0.100 Biomarker disease BEFREE Correction: Bidirectional linkage between the B-cell receptor and NOTCH1 in chronic lymphocytic leukemia and in Richter's syndrome: therapeutic implications. 31836851 2019
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		0.100 GeneticVariation disease BEFREE NOTCH1 mutations are related to a high risk of Richter's syndrome transformation, especially in case of TP53 disruptions' coexistence. 28994094 2017
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		0.100 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
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		0.100 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
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		0.100 GeneticVariation disease BEFREE Recent studies have also identified the crucial role of CDKN2A loss, TP53 disruption, C-MYC activation, and NOTCH1 mutations in the transformation from CLL to RS. 24421328 2014
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		0.100 GeneticVariation disease BEFREE There was a significantly higher risk for Richter's syndrome (RS) transformation in patients with NOTCH1 or FBXW7 mutations, with four of the seven (57%) patients developing RS and characterized at least by one of the two abnormalities. 23861036 2014
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		0.100 Biomarker disease BEFREE RS lesions are heterogeneous in terms of load and spectrum among patients, and include those involved in CLL progression and chemorefractoriness (TP53 disruption and NOTCH1 activation) as well as some not previously implicated in CLL or RS pathogenesis. 24127483 2013
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		0.100 GeneticVariation disease BEFREE On the contrary, NOTCH1, SF3B1 and BIRC3 mutations appear to have a specific significance, the clinical value of which is currently being validated, i.e. association to Richter syndrome transformation for NOTCH1 mutations, and short progression-free survival after treatment for SF3B1 mutations. 23633543 2013
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		0.100 GeneticVariation disease BEFREE The poor prognosis conferred by NOTCH1 mutations was attributable, at least in part, to shorter treatment-free survival and higher risk of Richter transformation. 22077063 2012
CUI: C0349631
Disease: Richter's syndrome
Richter's syndrome 		0.100 AlteredExpression disease BEFREE Although most of these genes were affected at low frequency in an expanded CLL screening cohort, mutational activation of NOTCH1, observed in 8.3% of CLL at diagnosis, was detected at significantly higher frequency during disease progression toward Richter transformation (31.0%), as well as in chemorefractory CLL (20.8%). 21670202 2011