Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Location [1]
Cell cycle control
Protein [2]
Retinoblastoma-associated protein
Synonyms [1]
pRb, OSRC, p105-Rb, PPP1R130, pp110, p110-RB1, RB

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].

RB1 GENIE Cases - Top Diseases

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].

RB1 GENIE Cases - Top Alterations

Significance of RB1 in Diseases

Malignant Solid Tumor +

Malignant Glioma +

Prostate Carcinoma +

Breast Carcinoma +

Soft Tissue Sarcoma +

Ovarian Carcinoma +

Diffuse Intrinsic Pontine Glioma +

Leiomyosarcoma +

Bladder Carcinoma +

Urothelial Carcinoma +

Glioblastoma +

Primary Peritoneal Carcinoma +

Glioma +

Non-Small Cell Lung Carcinoma +

Prostate Adenocarcinoma +

Melanoma +

Fallopian Tube Carcinoma +

Colorectal Carcinoma +

Hepatocellular Carcinoma +

Non-Hodgkin Lymphoma +

Anaplastic Astrocytoma +

Retinoblastoma +

Pleomorphic Rhabdomyosarcoma +

Vaginal Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Myxofibrosarcoma +

Dedifferentiated Chondrosarcoma +

Sarcoma +

Osteosarcoma +

Endometrial Carcinoma +

Fibrosarcoma +

Head And Neck Squamous Cell Carcinoma +

Cervical Carcinoma +

Central Nervous System Neoplasm +

Head And Neck Carcinoma +

Liposarcoma +

Medulloblastoma +

Esophageal Carcinoma +

Epithelioid Sarcoma +

WHO Grade III Glioma +

Chondrosarcoma +

Gastric Carcinoma +

Invasive Breast Carcinoma +

Lymphoma +

Synovial Sarcoma +

Central Nervous System Embryonal Neoplasm +

Ductal Carcinoma In Situ +

High Grade Ovarian Serous Adenocarcinoma +

Ependymoma +

Anal Carcinoma +

Pancreatic Carcinoma +

Meningioma +

Malignant Peripheral Nerve Sheath Tumor +

Dedifferentiated Liposarcoma +

Multiple Myeloma +

Clear Cell Renal Cell Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Germ Cell Tumor +

Acute Myeloid Leukemia +

Myeloid Neoplasm +

Angiosarcoma +

Atypical Teratoid/Rhabdoid Tumor +

Childhood Brain Stem Glioma +

Chordoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Myelodysplastic Syndrome With Excess Blasts-2 +

Penile Carcinoma +

Spinal Cord Neoplasm +

Undifferentiated (Embryonal) Sarcoma +

Vulvar Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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.