Biomarkers /
NFKB1
Back to Biomarkers List
Associated Diseases
Overview
Nuclear factor of kappa light polypeptie gene enhancer in B-cells 1 (NFKB1) is a gene that encodes a protein that is a subunit of the NF-kappa-B complex, a transcription regulator. Missense mutations, silent mutations, nonsense mutations, and frameshift insertions are observed in cancers such as skin cancer, colon cancer, and endometrial cancer.
NFKB1 is altered in 0.29% of all cancers with cervical squamous cell carcinoma, endometrial endometrioid adenocarcinoma, endometrial serous adenocarcinoma, high grade ovarian serous adenocarcinoma, and anaplastic astrocytoma having the greatest prevalence of alterations [3].
The most common alterations in NFKB1 are NFKB1 Mutation (1.57%), NFKB1 A604V (0.39%), NFKB1 A623T (0.39%), NFKB1 A890T (0.39%), and NFKB1 D786V (0.20%) [3].
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.