Biomarkers /
MLH3
Overview
MutL homolog 3 (MLH3) is a gene that encodes a protein that functions in maintaining genomic integrity during DNA replication and following meiotic recombination. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.
MLH3 is altered in 2.97% of all cancers with colon adenocarcinoma, lung adenocarcinoma, melanoma, endometrial endometrioid adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].
The most common alterations in MLH3 are MLH3 Mutation (2.53%), MLH3 E386K (0.08%), MLH3 N540S (0.04%), MLH3 Q1123* (0.04%), and MLH3 R1115Q (0.05%) [3].
Clinical Trials
Significance of MLH3 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.