Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
8q21.3
Protein [2]
Nibrin
Synonyms [1]
NBS1, P95, AT-V1, AT-V2, NBS, ATV

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 1.91% 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 (1.21%), NBN Mutation (germline) (1.21%), NBN Mutation (somatic) (1.21%), NBN Amplification (0.98%), and NBN Frameshift (0.22%) [3].

NBN GENIE Cases - Top Alterations

Significance of NBN in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Pancreatic Adenocarcinoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Small Cell Lung Carcinoma +

Squamous Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Cervical Carcinoma +

Melanoma +

Colorectal Carcinoma +

Gastric Adenocarcinoma +

Esophageal Adenocarcinoma +

Gastric Carcinoma +

Clear Cell Renal Cell Carcinoma +

Pancreatic Carcinoma +

Cholangiocarcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Squamous Cell Carcinoma +

Osteosarcoma +

Soft Tissue Sarcoma +

Uveal Melanoma +

Hepatocellular Carcinoma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Bladder Urothelial Carcinoma +

Lung Adenocarcinoma +

Malignant Gastric Neoplasm +

Esophageal Carcinoma +

Cancer +

Malignant Esophagogastric Neoplasm +

Malignant Ovarian Epithelial Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Kidney Carcinoma +

Biliary Tract Carcinoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Ewing Sarcoma +

Head And Neck Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Leiomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

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 +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20171026. 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.