NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 CausalMutation group CGI
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE Strikingly increased expression of notch-1 has been demonstrated in several human malignancies and pre-neoplastic lesions. 10227380 1999
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE By contrast, 18 MSI+ colorectal cancers (13 cancer cell lines and five primary tumors) with mismatch repair defects exhibited six mutations in three of the 17 genes (SREBP-2, TAN-1, GR6) (P<0.000003 compared to all other cancers tested). 11314036 2001
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Whereas much is known about the role of Notch1 in human cancer, the role of Notch3 in epithelial tumors, such as lung carcinomas, has not been well established. 15867348 2005
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE The expression of Notch 1-EC protein was similar in benign and malignant tumours. 16136053 2005
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Notch signaling plays a critical role in the pathogenesis and progression of human malignancies but the precise role and mechanism of Notch-1 for tumor invasion remains unclear. 16510599 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Activating Notch1 mutations are an early event in T-cell malignancy of Ikaros point mutant Plastic/+ mice. 16870249 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE Here we show that Notch1 gene expression and activity are substantially down-modulated in keratinocyte cancer cell lines and tumors, with expression of this gene being under p53 control in these cells. 17344417 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE Together, our observations suggest that p53-mediated upregulation of Notch1 expression in human cancer cell lines contributes to cell fate determination after genotoxic stress. 17534448 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE To see whether NOTCH1 mutation occurs in other malignancies, we analyzed NOTCH1 for the detection of somatic mutations in 334 malignancies, including 48 lung, 48 breast, 48 colorectal and 48 gastric carcinomas, and 142 acute leukemias (105 acute myelogenous leukemias, 32 B-ALLs and 4 T-ALLs) by single-strand conformation polymorphism assay. 18184405 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Aberrant Notch activation is linked to cancer since 1991 when mammalian Notch1 was first identified as part of the translocation t(7;9) in a subset of human T-cell acute lymphoblastic leukemias (T-ALL). 18289013 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE To investigate the role Notch signaling plays in the proliferation of cancer cell lines, the expression profiles of Notch1 in six human cancer cell lines (Jurkat, HepG2, SW620, KATOIII, A375, BT474) were examined. 18418214 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE Thus, our data reveal a key role of EGFR signalling in the negative regulation of Notch1 gene transcription, of potential relevance for combinatory approaches for cancer therapy. 18604200 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE We investigated the expression of Notch1 and its relationship with differentiation status and tumor (Union Internationale Contre le Cancer, UICC) stage using a series of 237 colorectal cancer samples with matched adjacent normal tissues and a series of 46 normal colorectal specimens. 18777195 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Thus, the molecular circuitry established by Notch1 and Pin1 may have a key role in cancer. 19151708 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Although dysregulation of the NOTCH1 pathway occurs in a substantial fraction of cases, many other genetic lesions of T-cell malignancy have not yet been determined. 19516274 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE Enhanced expression of Notch1 protein was an early event in both murine and human breast cancer development with progressive increases in expression with the development of hyperplasia and malignancy. 20459529 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE Although many studies have been done to uncover the mechanisms by which down-regulation of Notch-1 exerts its anti-tumor activity against a variety of human malignancies, the precise molecular mechanisms remain unclear. 20658545 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Notch-1 induces epithelial-mesenchymal transition consistent with cancer stem cell phenotype in pancreatic cancer cells. 21463919 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Wild-type mice were more susceptible to CAC following inhibition of Notch1 by DAPT, shown by increased numbers of tumors and level of dysplasia compared with controls. 21723221 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Characterization of transgenic mice expressing cancer-associated variants of human NOTCH1. 21898766 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE The functional interchangeability of mammalian Notch receptors (Notch1-4) in normal and pathophysiologic contexts such as cancer is unsettled. 22022427 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE NOTCH1 is a regulator that functions not only in tissue development, but also in cancer pathogenesis. 22038626 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE In addition, gain-of-function NOTCH1 mutation was found in human T-cell malignancy with elevated expression of RasGRP1. 22116551 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Here, we report a TNFα/IKKα/FOXA2/NUMB/NOTCH1 pathway that is critical for inflammation-mediated tumorigenesis and may provide a target for clinical intervention in human cancer. 22196886 2012