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Ref Type Journal Article
PMID (22293180)
Authors Sachdeva UM, O'Brien JM
Title Understanding pRb: toward the necessary development of targeted treatments for retinoblastoma.
Journal The Journal of clinical investigation
Vol 122
Issue 2
Date 2012 Feb
URL
Abstract Text Retinoblastoma is a pediatric retinal tumor initiated by biallelic inactivation of the retinoblastoma gene (RB1). RB1 was the first identified tumor suppressor gene and has defined roles in the regulation of cell cycle progression, DNA replication, and terminal differentiation. However, despite the abundance of work demonstrating the molecular function and identifying binding partners of pRb, the challenge facing molecular biologists and clinical oncologists is how to integrate this vast body of molecular knowledge into the development of targeted therapies for treatment of retinoblastoma. We propose that a more thorough genetic understanding of retinoblastoma would inform targeted treatment decisions and could improve outcomes and quality of life in children affected by this disease.

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Molecular Profile Treatment Approach
RB1 Q93* HDAC Inhibitor
RB1 S816* HDAC Inhibitor
RB1 Q575* HDAC Inhibitor
RB1 R255* HDAC Inhibitor
RB1 S634* HDAC Inhibitor
RB1 R579* HDAC Inhibitor
RB1 W195* HDAC Inhibitor
RB1 F526Lfs*6 HDAC Inhibitor
RB1 W681* HDAC Inhibitor
RB1 R320* HDAC Inhibitor
RB1 Q62* HDAC Inhibitor
RB1 Q266* HDAC Inhibitor
RB1 W99* HDAC Inhibitor
RB1 N849Rfs*23 HDAC Inhibitor
RB1 Q639* HDAC Inhibitor
RB1 E280* HDAC Inhibitor
RB1 T766fs HDAC Inhibitor
RB1 S834* HDAC Inhibitor
RB1 C706F HDAC Inhibitor
RB1 N258fs HDAC Inhibitor
RB1 C553* HDAC Inhibitor
RB1 R358* HDAC Inhibitor
RB1 E275* HDAC Inhibitor
RB1 E79* HDAC Inhibitor
RB1 C712R HDAC Inhibitor
RB1 Q217* HDAC Inhibitor
RB1 R621C HDAC Inhibitor
RB1 E675* HDAC Inhibitor
RB1 R698W HDAC Inhibitor
RB1 K240Sfs*22 HDAC Inhibitor
RB1 W516* HDAC Inhibitor
RB1 E554* HDAC Inhibitor
RB1 E843* HDAC Inhibitor
RB1 K740* HDAC Inhibitor
RB1 E268* HDAC Inhibitor
RB1 R7fs HDAC Inhibitor
RB1 inact mut HDAC Inhibitor
RB1 L607I HDAC Inhibitor
RB1 Q344fs HDAC Inhibitor
RB1 L523fs HDAC Inhibitor
RB1 R251* HDAC Inhibitor
RB1 R272* HDAC Inhibitor
RB1 R445* HDAC Inhibitor
RB1 Q685* HDAC Inhibitor
RB1 E323* HDAC Inhibitor
RB1 E137* HDAC Inhibitor
RB1 A10fs HDAC Inhibitor
RB1 R611* HDAC Inhibitor
RB1 Q395* HDAC Inhibitor
RB1 R787* HDAC Inhibitor
RB1 I101fs HDAC Inhibitor
RB1 Q257* HDAC Inhibitor
RB1 C221* HDAC Inhibitor
RB1 V654fs HDAC Inhibitor
RB1 del HDAC Inhibitor
RB1 K432* HDAC Inhibitor
RB1 K319Nfs*13 HDAC Inhibitor
RB1 L199* HDAC Inhibitor
RB1 R552* HDAC Inhibitor
RB1 E748* HDAC Inhibitor
RB1 Q471* HDAC Inhibitor
RB1 loss HDAC Inhibitor
RB1 R552fs HDAC Inhibitor
RB1 negative HDAC Inhibitor
RB1 E30* HDAC Inhibitor
RB1 E48* HDAC Inhibitor
RB1 K202* HDAC Inhibitor
RB1 Q344* HDAC Inhibitor
RB1 K765* HDAC Inhibitor
RB1 R556* HDAC Inhibitor
RB1 Q504* HDAC Inhibitor
RB1 G435* HDAC Inhibitor
RB1 L797fs HDAC Inhibitor
RB1 Y728* HDAC Inhibitor
RB1 S463fs HDAC Inhibitor
RB1 R455* HDAC Inhibitor
RB1 Q354* HDAC Inhibitor
RB1 E413* HDAC Inhibitor
RB1 E545* HDAC Inhibitor
RB1 E440* HDAC Inhibitor
RB1 K715* HDAC Inhibitor
RB1 R467* HDAC Inhibitor
RB1 A11fs HDAC Inhibitor
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
RB1 NCBI OSRC|p105-Rb|p110-RB1|pp110|PPP1R130|pRb|RB RB1, RB transcriptional corepressor 1, is a key negative regulator of the G1 to S transition during cell division (PMID: 15084261) and also plays a role in cell differentiation, survival, senescence, epigenetic regulation, and genome stability (PMID: 21295686, PMID: 23359405, PMID: 22293180) and is a downstream target of CDK4 and CDK6 (PMID: 31174843). Inactivation of Rb1 and loss of Rb1 tumor suppressor function has been identified in many early stage cancers (PMID: 26160835) and is recurrent in retinoblastoma (PMID: 32222358). Tumor suppressor
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References