Overview

Location [1]
5q31.1
Pathway
DNA damage/repair
Protein [2]
DNA repair protein RAD50
Synonyms [1]
NBSLD, hRad50, RAD502

RAD50 homolog (RAD50) is a gene that encodes a protein that functions in double-strand break repair. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

RAD50 is altered in 1.20% of all cancers with colon adenocarcinoma, lung adenocarcinoma, bladder urothelial carcinoma, endometrial endometrioid adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

RAD50 GENIE Cases - Top Diseases

The most common alterations in RAD50 are RAD50 Mutation (1.02%), RAD50 Frameshift (0.07%), RAD50 Loss (0.05%), RAD50 R938* (0.02%), and RAD50 Amplification (0.01%) [3].

RAD50 GENIE Cases - Top Alterations

Significance of RAD50 in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Pancreatic Adenocarcinoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Cervical Carcinoma +

Non-Hodgkin Lymphoma +

Non-Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Small Cell Lung Carcinoma +

Melanoma +

Colorectal Carcinoma +

Gastrointestinal Stromal Tumor +

Clear Cell Renal Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Pancreatic Carcinoma +

Cholangiocarcinoma +

Gastric Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Osteosarcoma +

Soft Tissue Sarcoma +

Squamous Cell Lung Carcinoma +

Diffuse Large B-Cell Lymphoma +

Bladder Urothelial Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Malignant Esophagogastric Neoplasm +

Cancer +

Kidney Carcinoma +

Malignant Ovarian Epithelial Tumor +

Invasive Breast Carcinoma +

Biliary Tract Carcinoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Bile Duct Adenocarcinoma +

Ewing Sarcoma +

Gastric Adenocarcinoma +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Leiomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Gastric Neoplasm +

Malignant Mesothelioma +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Mesothelioma +

Multiple Myeloma +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Rhabdomyosarcoma +

Uveal Melanoma +

Vaginal 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. 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.