Gene Location [1]
Cell cycle control

RB1 Mutation is present in 2.64% of AACR GENIE cases, with lung adenocarcinoma, bladder urothelial carcinoma, small cell lung carcinoma, breast invasive ductal carcinoma, and colon adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with RB1 Mutation

Significance of RB1 Mutation in Diseases

Malignant Solid Tumor +

Prostate Carcinoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Breast Carcinoma +

Non-Hodgkin Lymphoma +

Retinoblastoma +

Bladder Carcinoma +

Urothelial Carcinoma +

Glioblastoma +

Cervical Carcinoma +

Soft Tissue Sarcoma +

Sarcoma +

Melanoma +

Head And Neck Carcinoma +

Esophageal Carcinoma +

Gastric Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Anal Carcinoma +

Pancreatic Carcinoma +

Anaplastic Astrocytoma +

Lymphoma +

Clear Cell Renal Cell Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Acute Myeloid Leukemia +

Myeloid Neoplasm +

Germ Cell Tumor +

Childhood Brain Stem Glioma +

Diffuse Intrinsic Pontine Glioma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Penile Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +


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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.