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RB1
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Interpretation 184
Tier 3
RB1
Variants
Primary Sites
Eye
Tumor Types
Retinoblastoma
Interpretation

The RB1 protein is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma - See more at: http://www.cancerindex.org/geneweb/RB1.htm#sthash.uzBqWCrJ.dpuf

Citations
  1. DiFiore et al.. RB1 in Cancer: Different Mechanisms of RB1 Inactivation and Alterations of pRb Pathway in Tumorigenesis. J. Cell. Physiol. 228: 1676–1687, 2013
Last updated: 2016-10-11 21:33:42 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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