RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The oncogenic effect of HPV16-E7 relies on its binding to the tumor suppressor pRb protein leading to a dysregulated cell duplication. 31806970 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 PosttranslationalModification group BEFREE These effects appear to be mediated by the increase of p21 <sup>waf1</sup> and p27 <sup>Kip1</sup> , associated with a reduction of Cyclin D1 and Rb1 protein phosphorylation, and involve the downregulation of key molecules responsible for tumor development, that is, Notch1, Sox2, Stat3, and Survivin. 30701538 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE We also discuss the subtype of retinoblastoma driven by the MYCN oncogene more commonly associated with neuroblastoma, and consider trilateral retinoblastoma, in which an intracranial tumor arises along with ocular tumors in patients with germline RB1 gene mutations. 29314142 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The retinoblastoma RB1 gene has been identified in the 80s as the first tumor suppressor. 31176618 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The same outcome for chemotherapy treatment was observed in LCNEC tumors harboring an <i>RB1</i> mutation or lost RB1 protein.<b>Conclusions:</b> Patients with LCNEC tumors that carry a wild-type <i>RB1</i> gene or express the RB1 protein do better with NSCLC-GEM/TAX treatment than with SCLC-PE chemotherapy. 29066508 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE Expression of tumor suppressors, phosphatase and tensin homolog (PTEN) and Retinoblastoma-associated protein (Rb), and apoptosis-associated proteins were evaluated by western blotting. 29963139 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE RB1 protein was more frequently expressed in peripheral tumor than central tumor. 29413048 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE No EZH2 mutations were detected, however, overexpression of c-Myc, E2F1 and pRb proteins as well as reduced expression of the tumor suppressor miR-26a were demonstrated in the PCs. 30031020 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 PosttranslationalModification group BEFREE It has increasingly been considered crucial the understanding of DNA methylation of Tumor Suppressor Gene (TSG) promoters, such as that of retinoblastoma 1 gene (RB1), and its role during carcinogenesis. 29468541 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE The A153104G nucleotide polymorphism did not emerge as a potential biomarker for the development of precancerous lesions in the Greek patients, while the accumulation of sequence variations in RB1 gene might influence patients' susceptibility towards the progression of cervical neoplasia. 30303478 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Sanger sequencing of the AH cfDNA and tumor DNA with polymerase chain reaction primers targeting RB1 gene c.1075A demonstrated this same RB1 mutation. 29049475 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE PRB-H tumors showed increased tumor size ( P <  .001), Ki-67 levels ( P <  .001), human epidermal growth factor receptor 2 expression ( P =  .04), high grades ( P =  .03), and decreased total PR ( P =  .004) compared with PRA-H tumors. 28376177 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE We developed a model to study the role of RB1 in early development and tumor formation by generating RB1-null hESCs using CRISPR/Cas9. 28392220 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. 29261756 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Retinoblastoma is the most common malignant tumour of the eye in childhood, with nearly all bilateral tumours and around 17% to 18% of unilateral tumours due to an oncogenic mutation in the RB1 gene in the germline. 28397259 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE HPV-associated cancers have recurrent somatic mutations in phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (<i>PIK3CA</i>) and phosphatase and tensin homolog (<i>PTEN</i>), human leukocyte antigen A and B (<i>HLA-A</i> and <i>HLA-B</i>)<i>-A/B</i>, and the transforming growth factor beta (TGFβ) pathway, and rarely have mutations in the tumor protein p53 (<i>TP53</i>) and RB transcriptional corepressor 1 (<i>RB1</i>) tumor suppressor genes. 28771191 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE In addition, inactivation of the tumor suppressor retinoblastoma 1 (RB1), reflected by CCND1/CDK6-inactivating phosphorylation of RB1 at T356, inversely correlated with expression of EGFR in patient HNSCC samples. 27507850 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The RBsig was associated with RB1 genetic status in all tumors (p <7e-32) and in luminal or basal subtypes (p < 7e-11 and p < 0.002, respectively). 27634906 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE Interestingly, ∼25% of SCLC cell lines and tumor specimens expressed RB1 protein, possibly representing the subgroup with wild-type RB1. 26802149 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE The methylation status of the 27 CpGs dinucleotides that constitute the core of the RB1 gene promoter, analyzed by cloning and genomic sequencing after DNA sodium bisulfite conversion, demonstrated a monoallelic methylation pattern which coincides with a c. [-187T > G; -188T > G] sequence variant that is found in peripheral blood lymphocytes and tumor DNA. 26753011 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Consistently, in two human breast cancer xenograft models, one manipulated to overexpress PRA or PRB (IBH-6 cells), and the other expressing only PRA (T47D-YA) or PRB (T47D-YB), MFP selectively inhibited the growth of PRA-overexpressing tumors and stimulated IBH-6-PRB xenograft growth. 25363551 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Identification of the oncogenic mutations in the RB1 gene is important for the clinical management and for genetic counseling to families with a child or a parent affected with the tumor. 25754945 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE DNA from patient blood and/or tumor was used for RB1 gene targeted sequencing. 25928201 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The tumor suppressor RB1 gene codes for the retinoblastoma protein which is a key regulator of cellular replication via its binding to the E2F family of transcription factors and chromatin remodeling proteins. 26310174 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014