Overview

CCCTC-binding factor (zinc finger protein) (CTCF) is a gene that encodes a protein that functions as a transcriptional regulator. Missense mutations, nonsense mutations, frameshift insertions, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, colon cancer, and stomach cancer.

CTCF is altered in 2.06% of all cancers with endometrial endometrioid adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, lung adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

The most common alterations in CTCF are CTCF T204fs (0.40%), CTCF Loss (0.11%), CTCF Amplification (0.07%), CTCF E691fs (0.06%), and CTCF R377C (0.05%) [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.