Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

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 1.51% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, bladder urothelial carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

RAD50 GENIE Cases - Top Diseases

The most common alterations in RAD50 are RAD50 Mutation (1.22%), RAD50 Nonsense (0.16%), RAD50 Loss (0.10%), RAD50 R938* (0.02%), and RAD50 V703A (0.08%) [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 +

Gastric Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Urothelial Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Esophageal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Squamous Cell Lung Carcinoma +

Head And Neck Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Hodgkin Lymphoma +

Osteosarcoma +

Bladder Urothelial Carcinoma +

Malignant Small Intestinal Neoplasm +

Anal Carcinoma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Esophageal Adenocarcinoma +

Gastric Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Clear Cell Renal Cell Carcinoma +

Diffuse Large B-Cell Lymphoma +

Glioma +

Cancer +

Malignant Central Nervous System Neoplasm +

Rhabdomyosarcoma +

Mantle Cell Lymphoma +

Biliary Tract Carcinoma +

Malignant Ovarian Epithelial Tumor +

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

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

Invasive Breast Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Medulloblastoma +

Ampulla Of Vater Carcinoma +

Low Grade Ovarian Serous Adenocarcinoma +

Neuroblastoma +

Multiple Myeloma +

Leiomyosarcoma +

Ewing Sarcoma +

Malignant Mesothelioma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

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 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.