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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. | ||||||||||||
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| 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. | ||||||||||||
| 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 |
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| Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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