Biomarkers /
RB1
Overview
Retinoblastoma 1 (RB1) is a gene that encodes a protein that is a negative regulator of the cell cycle as well as a tumor suppressor. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as cancers of the fallopian tubes, cancers of the eye, and intestinal cancer.
RB1 is altered in 5.10% of all cancers with lung adenocarcinoma, small cell lung carcinoma, breast invasive ductal carcinoma, bladder urothelial carcinoma, and conventional glioblastoma multiforme having the greatest prevalence of alterations [3].
The most common alterations in RB1 are RB1 Mutation (2.64%), RB1 Nonsense (1.39%), RB1 Loss (1.19%), RB1 Fusion (0.15%), and RB1 Amplification (0.12%) [3].
Clinical Trials
Significance of RB1 in Diseases
References
1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.
4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.