Associated Genetic Biomarkers
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 .
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%) .
RECQL4 status serves as an inclusion eligibility criteria in 2 clinical trials, of which 1 is open and 1 is closed. Of the trials that contain RECQL4 status as an inclusion criterion, 2 are phase 2 (1 open).
Trials with RECQL4 status in the inclusion eligibility criteria most commonly target small cell lung carcinoma and urothelial carcinoma .
The most frequent alterations to serve as inclusion eligibility criteria are RECQL4 Loss and RECQL4 Mutation .
Olaparib is the most frequent therapy in trials with RECQL4 as an inclusion criteria .
Significance of RECQL4 in Diseases
Urothelial Carcinoma +
Small Cell Lung Carcinoma +
RECQL4 is altered in 5.25% of small cell lung carcinoma patients .
RECQL4 is an inclusion criterion in 1 clinical trial for small cell lung carcinoma, of which 0 are open and 1 is closed. Of the trial that contains RECQL4 status and small cell lung carcinoma as inclusion criteria, 1 is phase 2 (0 open) .
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.