Associated Genetic Biomarkers
Associated Diseases


Location [1]
Protein [2]
Synonyms [1]
AT-V2, P95, NBS1, ATV, NBS, AT-V1

Nibrin (NBN) is a gene that encodes a protein that is a member of the MRE11/RAD50 double-strand break repair complex and is associated with Nijmegen breakage syndrome. Missense mutations, silent mutations, frameshift deletions, and nonsense mutations are observed in cancers such as colon cancer, stomach cancer, and endometrial cancer.

NBN is altered in 2.21% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, prostate adenocarcinoma, and invasive breast carcinoma having the greatest prevalence of alterations [3].

NBN GENIE Cases - Top Diseases

The most common alterations in NBN are NBN Mutation (1.16%), NBN Amplification (1.07%), NBN Frameshift (0.21%), NBN Nonsense (0.12%), and NBN R466fs (0.08%) [3].

NBN GENIE Cases - Top Alterations

Significance of NBN in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Fallopian Tube Carcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Adenocarcinoma +

Small Cell Lung Carcinoma +

Gastric Carcinoma +

Endometrial Carcinoma +

Colorectal Carcinoma +

Cervical Carcinoma +

Gastric Adenocarcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Melanoma +

Urothelial Carcinoma +

Head And Neck Carcinoma +

Bladder Urothelial Carcinoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Osteosarcoma +

Squamous Cell Lung Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Hodgkin Lymphoma +

Clear Cell Renal Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Penile Carcinoma +

Invasive Breast Carcinoma +

Malignant Uterine Neoplasm +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Malignant Small Intestinal Neoplasm +

Anal Carcinoma +

Bladder Carcinoma +

Rhabdomyosarcoma +

Lung Carcinoma +

Medulloblastoma +

Malignant Gastric Neoplasm +

Malignant Esophagogastric Neoplasm +

Gallbladder Carcinoma +

Cancer +

Diffuse Large B-Cell Lymphoma +

Low Grade Ovarian Serous Adenocarcinoma +

Glioma +

Biliary Tract Carcinoma +

Malignant Central Nervous System Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Adenocarcinoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Esophageal Squamous Cell Carcinoma +

Malignant Ovarian Epithelial Tumor +

Ewing Sarcoma +

Ampulla Of Vater Carcinoma +

Mantle Cell Lymphoma +

Leiomyosarcoma +

Malignant Mesothelioma +

Multiple Myeloma +

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

Neuroblastoma +

Bronchogenic Carcinoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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.