Overview

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

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.

Significance of NBN in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Primary Peritoneal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Fallopian Tube Carcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Adenocarcinoma +

Gastric Carcinoma +

Small Cell Lung Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Endometrial Carcinoma +

Gastric Adenocarcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Head And Neck Carcinoma +

Melanoma +

Urothelial Carcinoma +

Bladder Urothelial Carcinoma +

Clear Cell Renal Cell Carcinoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Squamous Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Hodgkin Lymphoma +

Osteosarcoma +

Squamous Cell Lung Carcinoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Adenocarcinoma +

Bile Duct Carcinoma +

Biliary Tract Carcinoma +

Bladder Carcinoma +

Bronchogenic Carcinoma +

Cancer +

Cholangiocarcinoma +

Colorectal Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Squamous Cell Carcinoma +

Ewing Sarcoma +

Gallbladder Carcinoma +

Glioma +

Invasive Breast Carcinoma +

Leiomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Lung Carcinoma +

Malignant Central Nervous System Neoplasm +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Malignant Intestinal Neoplasm +

Malignant Mesothelioma +

Malignant Ovarian Epithelial Tumor +

Malignant Small Intestinal Neoplasm +

Malignant Uterine Neoplasm +

Mantle Cell Lymphoma +

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

Medulloblastoma +

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_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.