Overview

RTEL1 is altered in 2.96% of all cancers with breast invasive ductal carcinoma, colon adenocarcinoma, lung adenocarcinoma, invasive breast carcinoma, and high grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

The most common alterations in RTEL1 are RTEL1 Amplification (1.80%), RTEL1 Loss (0.04%), RTEL1 D330N (0.02%), RTEL1 E1172K (0.01%), and RTEL1 R170H (0.02%) [3].

Significance of RTEL1 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.