Overview

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

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 1.54% of all cancers with colorectal adenocarcinoma, non-small cell lung carcinoma, breast carcinoma, melanoma, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

RAD50 GENIE Cases - Top Diseases

The most common alterations in RAD50 are RAD50 Mutation (1.02%), RAD50 Mutation (germline) (1.02%), RAD50 Frameshift (0.07%), RAD50 Frameshift (germline) (0.07%), and RAD50 Loss (0.05%) [3].

RAD50 GENIE Cases - Top Alterations

Significance of RAD50 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Urothelial Carcinoma +

Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Pancreatic Adenocarcinoma +

Fallopian Tube Carcinoma +

Non-Hodgkin Lymphoma +

Cervical Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastric Carcinoma +

Cholangiocarcinoma +

Primary Peritoneal Carcinoma +

Mantle Cell Lymphoma +

Diffuse Large B-Cell Lymphoma +

Endometrial Carcinoma +

Bladder Carcinoma +

Anal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Lung Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Clear Cell Renal Cell Carcinoma +

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

Osteosarcoma +

Pancreatic Carcinoma +

Squamous Cell Lung Carcinoma +

Mesothelioma +

Leiomyosarcoma +

Soft Tissue Sarcoma +

B-Cell Non-Hodgkin Lymphoma +

Cancer +

Histiocytic And Dendritic Cell Neoplasm +

Multiple Myeloma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Peritoneal Carcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.