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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 Biomarker group CTD_human Caveolin-1-/- null mammary stromal fibroblasts share characteristics with human breast cancer-associated fibroblasts. 19234134 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 PosttranslationalModification group LHGDN Dephosphorylation of Rb (Thr-821) in response to cell stress. 16764854 2006
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 AlteredExpression group BEFREE The data presented here demonstrate that changes to the RB1 gene leading to loss of expression of both alleles are frequent in primary human breast tumours. 2543943 1989
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 Biomarker group BEFREE These results imply that PRB-enriched breast tumors may respond well to anticancer therapies that include inhibitors of angiogenesis. 15026368 2004
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 Biomarker group LHGDN The retinoblastoma tumor suppressor modifies the therapeutic response of breast cancer. 17160137 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 AlteredExpression group LHGDN Downregulation of retinoblastoma protein is involved in the enhanced cytotoxicity of 4-hydroxytamoxifen plus mifepristone combination therapy versus antiestrogen monotherapy of human breast cancer. 17671693 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 GeneticVariation group BEFREE When combined with a previous study of chromosome 13 with emphasis on BRCA2 and Rb1 genes, this work allowed to distinguish a total of 12 regions of LOH, variably affected in breast tumors and correlated with prognostic parameters. 9018120 1997
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 Biomarker group LHGDN The HBP1 transcriptional repressor participates in RAS-induced premature senescence. 16966377 2006
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 Biomarker group CTD_human E2F1 expression is related with the poor survival of lymph node-positive breast cancer patients treated with fluorouracil, doxorubicin and cyclophosphamide. 14672398 2003
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 AlteredExpression group LHGDN Loss of retinoblastoma tumor suppressor protein makes human breast cancer cells more sensitive to antimetabolite exposure. 18381962 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 Biomarker group CTD_human RB-pathway disruption in breast cancer: differential association with disease subtypes, disease-specific prognosis and therapeutic response. 20948315 2010
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 PosttranslationalModification group BEFREE PRA and PRB promoters were methylated in 9.6% and 14.1% of the breast tumors, respectively. 21459801 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 AlteredExpression group LHGDN The cyclin D1 high and cyclin E high subgroups of breast cancer: separate pathways in tumorogenesis based on pattern of genetic aberrations and inactivation of the pRb node. 12096344 2002
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 AlteredExpression group BEFREE The relative expression of PRA and PRB proteins was determined by dual immunofluorescence histochemistry in archival breast tumors and associations with clinical and reproductive history assessed. 25917868 2015
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 AlteredExpression group LHGDN Lack of functional pRb results in attenuated recovery of mRNA synthesis and increased apoptosis following UV radiation in human breast cancer cells. 12085226 2002
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 GeneticVariation group BEFREE In virus-positive tumors, a portion of the viral genome, the large T antigen, may inactivate RB1, and in virus-negative Merkel cell carcinomas truncating mutations in the RB1 gene have been identified. 25446844 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 GeneticVariation group BEFREE Allelic loss at TP53 seems to arise independently of LOH at the RB1 gene in carcinomas of the uterine corpus in humans. 16293976 2005
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 Biomarker group CTD_human Deregulation of the cyclin D1/Cdk4 retinoblastoma pathway in rat mammary gland carcinomas induced by the food-derived carcinogen 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 14522882 2003
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 GeneticVariation group BEFREE No alterations in exon 21 of the RB1 gene in sarcomas and carcinomas of the breast, colon, and lung. 1381957 1992
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 GeneticVariation group BEFREE Inactivation of pRB by gross structural alterations or point mutations in the RB-1 gene has been described in a variety of human tumors, including retinoblastomas, osteosarcomas, and small cell lung carcinomas. 9192669 1997
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 Biomarker group BEFREE One-third of bladder carcinomas surveyed also carry altered or absent p105-Rb. 2181449 1990
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 AlteredExpression group BEFREE Cutaneous neuroendocrine (Merkel cell) carcinoma most often arises de novo in the background of a clonally integrated virus, the Merkel cell polyomavirus, and is notable for positive expression of retinoblastoma 1 (RB1) protein and low expression of p53 compared with the rare Merkel cell polyomavirus-negative Merkel cell carcinomas. 26022453 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.370 GeneticVariation group BEFREE Our data therefore suggest that major alterations affecting the RB1 gene are rather infrequent in human gastric carcinomas. 7947078 1994
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.350 GeneticVariation group BEFREE No alterations in exon 21 of the RB1 gene in sarcomas and carcinomas of the breast, colon, and lung. 1381957 1992
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.350 GeneticVariation group BEFREE Overall, 10 of 25 high-grade sarcomas had detectable alterations of the Rb-1 gene compared with only 1 of 11 low-grade tumors. 1988704 1991