Biomarkers /
RECQL4
Overview
RecQ helicase-like 4 (RECQL4) is a gene that encodes a DNA helicase that is predominantly expressed in thymus and testis. Missense mutations, synonymous mutations, nonsense mutations, and frameshift deletions are observed in cancers such as stomach cancer, colon cancer, and endometrial cancer.
RECQL4 is altered in 4.64% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, high grade ovarian serous adenocarcinoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].
The most common alterations in RECQL4 are RECQL4 Mutation (2.43%), RECQL4 Amplification (2.05%), RECQL4 Loss (0.06%), RECQL4 Deletion (0.04%), and RECQL4 G806E (0.12%) [3].
Clinical Trials
Significance of RECQL4 in Diseases
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.