Overview

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

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 2.25% of all cancers with breast carcinoma, non-small cell lung carcinoma, colorectal adenocarcinoma, prostate cancer, and uterine corpus neoplasm 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 Amplification (0.98%), NBN Frameshift (0.22%), and NBN Frameshift (germline) (0.22%) [3].

NBN GENIE Cases - Top Alterations

Significance of NBN in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Colorectal Carcinoma +

Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Pancreatic Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Fallopian Tube Carcinoma +

Urothelial Carcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Cholangiocarcinoma +

Primary Peritoneal Carcinoma +

Uveal Melanoma +

Endometrial Carcinoma +

Lung Adenocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Small Cell Lung Carcinoma +

Squamous Cell Lung Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Gastric Adenocarcinoma +

Esophageal Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Soft Tissue Sarcoma +

Anal Carcinoma +

Clear Cell Renal Cell Carcinoma +

Osteosarcoma +

Leiomyosarcoma +

High Grade Ovarian Serous Adenocarcinoma +

Pancreatic Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Cancer +

Mantle Cell Lymphoma +

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

Mesothelioma +

Multiple Myeloma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Peritoneal Carcinoma +

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.