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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GenomicAlterations disease CGI
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 CausalMutation disease CGI
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE We have analysed the organisation of the retinoblastoma (RB1) gene in 77 primary breast carcinomas, in metastatic tissue derived from 16 of those primary tumours, and in a variety of benign breast lesions. 2543943 1989
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Classical examples are the Rb-1 gene associated with the development of retinoblastoma and the p53 gene, which is associated with a wider range of neoplasms, including breast cancer. 1336726 1992
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE In order to evaluate the role of RB1 in cancer, the wild type RB1 gene was introduced into the RB1-deleted breast cancer cell line MDA-468-S4 and retinoblastoma cell lines WERI-Rb1 and Y-79. 1732054 1992
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE Association between RB-1 gene alterations and factors of favourable prognosis in human breast cancer, without effect on survival. 7615356 1995
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE Chromosome 13 contains at least two cancer genes, the well-characterized RB1 gene located at 13q14 and the breast cancer-susceptibility gene, BRCA2, recently localized to 13q12. 7547638 1995
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE This study shows a major role of the RB1 gene in the pathogenesis of breast cancer. 11108660 2000
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE These results suggest that both PRA and PRB are strongly associated with ERalpha in human breast and this relation may be disturbed in breast cancer. 11267940 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE PR negative cell lines stably transfected to express only PRA (MCF-7Mll/PRA) or PRB (MDA-MB-231/PRB), and tissue sections of human breast carcinoma and normal endometrium were stained using an immunoperoxidase method. 11477119 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE Using immunohistochemical techniques, we focused on the expression and phosphorylation of hormone receptors themselves and examined the phosphorylation of ER-alpha Ser118 and ER-alpha Ser167 and the expression of ER-alpha, ER-beta1, ER-betacx/beta2, progesterone receptor (PR), PRA, and PRB in the primary breast carcinomas of 75 patients with metastatic breast cancer who received first-line treatment with endocrine therapy after relapse. 16168121 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GeneticVariation disease BEFREE The purpose of this study was to determine whether common variants in the RB1 gene are associated with breast cancer risk. 16685266 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 AlteredExpression disease BEFREE Immunohistochemical analysis showed no detectable expression of ERalpha, PRB and BRCA1 in 21/36 (58%), 20/36 (56%) and 23/36 (64%) tumors respectively; significant correlation was observed between promoter methylation and loss of protein expression confirming our hypothesis that promoter methylation is an important mechanism for transcriptional silencing of these genes in breast cancer in this population. 17599361 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 PosttranslationalModification disease BEFREE Progesterone receptor B (PRB) promoter hypermethylation in sporadic breast cancer: progesterone receptor B hypermethylation in breast cancer. 17896177 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 AlteredExpression disease BEFREE The loss of the retinoblastoma tumour suppressor encoded by the RB1 locus is a well-characterised occurrence in many tumour types; however, its role in breast cancer is less clear with many reports demonstrating a loss of heterozygosity that does not correlate with a loss of RB1 protein expression. 18782450 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease CTD_human Caveolin-1-/- null mammary stromal fibroblasts share characteristics with human breast cancer-associated fibroblasts. 19234134 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease CTD_human RB-pathway disruption in breast cancer: differential association with disease subtypes, disease-specific prognosis and therapeutic response. 20948315 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE The tumor suppressor gene retinoblastoma 1 (RB1) is frequently lost in both luminal-B and triple-negative tumor (TNT; i.e., estrogen receptor-, progesterone receptor-, and human epidermal growth factor receptor 2-negative) breast cancer subtypes. 20679727 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 AlteredExpression disease BEFREE However, alteration in PRA/PRB expression is often observed in aggressive breast cancer suggesting differential contribution of PR isoforms in carcinogenesis. 23029355 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE Progesterone receptor isoforms PRA and PRB differentially contribute to breast cancer cell migration through interaction with focal adhesion kinase complexes. 23485561 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE Additionally, using the RT(2) Profiler PCR Array, retinoblastoma 1 (RB1) was identified as a direct target of the BMP-6/miR-192 pathway in regulating cell proliferation in breast cancer. 24012720 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 AlteredExpression disease BEFREE These data support a role for imbalanced PRA:PRB expression in breast cancer progression and relative benefit from endocrine treatment. 25917868 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 Biomarker disease BEFREE We aimed at analyzing the respective contribution of PR isoforms, PRA and PRB, in breast cancer cell proliferation in a new estrogen-independent cell based-model, allowing independent PR isoforms analysis. 26474308 2015