Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
13q14.2
Pathway
Cell cycle control
Protein [2]
Retinoblastoma-associated protein
Synonyms [1]
p105-Rb, OSRC, RB, pp110, PPP1R130, pRb

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 4.03% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, small cell lung carcinoma, bladder urothelial carcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

RB1 GENIE Cases - Top Diseases

The most common alterations in RB1 are RB1 Mutation (4.71%), RB1 Mutation (germline) (4.71%), RB1 Nonsense (germline) (1.91%), RB1 Frameshift (germline) (1.22%), and RB1 Loss (1.22%) [3].

RB1 GENIE Cases - Top Alterations

Significance of RB1 in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Soft Tissue Sarcoma +

Malignant Glioma +

Glioma +

Prostate Carcinoma +

Ovarian Carcinoma +

Diffuse Intrinsic Pontine Glioma +

Leiomyosarcoma +

Bladder Carcinoma +

Glioblastoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Hepatocellular Carcinoma +

Anaplastic Astrocytoma +

Fallopian Tube Carcinoma +

Primary Peritoneal Carcinoma +

Urothelial Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Undifferentiated Sarcoma +

Sarcoma +

Endometrial Carcinoma +

Osteosarcoma +

Central Nervous System Neoplasm +

Cervical Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Gastric Carcinoma +

Lymphoma +

Esophageal Carcinoma +

Pancreatic Carcinoma +

Liposarcoma +

Anal Carcinoma +

Angiosarcoma +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Embryonal Neoplasm +

Childhood Brain Stem Glioma +

Chondrosarcoma +

Chordoma +

Dedifferentiated Chondrosarcoma +

Dedifferentiated Liposarcoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Ductal Carcinoma In Situ +

Ependymoma +

Epithelioid Sarcoma +

Fibrosarcoma +

Germ Cell Tumor +

Head And Neck Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Peripheral Nerve Sheath Tumor +

Medulloblastoma +

Meningioma +

Multiple Myeloma +

Myxofibrosarcoma +

Penile Carcinoma +

Pleomorphic Rhabdomyosarcoma +

Spinal Cord Neoplasm +

Synovial Sarcoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

WHO Grade III Glioma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20171026. 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 6. 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.