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RB1
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Interpretation 322
Tier 2
RB1
Variants
Primary Sites
Brain
Tumor Types
Glioblastoma
Interpretation

The protein encoded by the RB1 gene is a negative regulator of the cell cycle and was the first tumor suppressor gene identified. The active, hypophosphorylated form of the protein binds transcription factor E2F1. RB1 alterations including mutations and deletions are seen in up to 11% of glioblastomas. It has been suggested that patients with RB1-deficient tumors do not respond to cyclin-dependent kinase (CDK) inhibitors. The predictive and prognostic significance of RB1 mutations in glioblastoma needs to be further studied.

Citations
  1. Cancer Genome Atlas Research Network. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 2008;455(7216):1061-8
  2. Brennan CW, et al. The somatic genomic landscape of glioblastoma. Cell 2013;155(2):462-77
  3. Schroder LB, et al. CDK4/6 Inhibitor PD0332991 in Glioblastoma Treatment: Does It Have a Future? Front Oncol 2015;5():259
Last updated: 2017-01-03 16:42:29 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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