Overview

Gene Location [1]
13q14.2
Pathway
Cell cycle control
Variant Type
Loss
Gene
RB1

RB1 Loss is present in 1.19% of AACR GENIE cases, with prostate adenocarcinoma, leiomyosarcoma, uterine corpus leiomyosarcoma, breast invasive ductal carcinoma, and small cell lung carcinoma having the greatest prevalence [4].

Top Disease Cases with RB1 Loss

Significance of RB1 Loss in Diseases

Malignant Solid Tumor +

Prostate Carcinoma +

Prostate Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Vaginal Carcinoma +

Retinoblastoma +

Sarcoma +

Soft Tissue Sarcoma +

Anaplastic Astrocytoma +

High Grade Ovarian Serous Adenocarcinoma +

Lymphoma +

Bladder Carcinoma +

Ovarian Carcinoma +

Urothelial Carcinoma +

Glioblastoma +

Breast Carcinoma +

Head And Neck Carcinoma +

Colorectal Carcinoma +

Melanoma +

Pancreatic Carcinoma +

Myeloid Neoplasm +

Acute Myeloid Leukemia +

Anal Carcinoma +

Cervical Carcinoma +

Childhood Brain Stem Glioma +

Clear Cell Renal Cell Carcinoma +

Diffuse Intrinsic Pontine Glioma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Penile Carcinoma +

Vulvar Carcinoma +

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. 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.