Biomarkers /
KMT2C
Overview
Lysine (K)-specific methyltransferase 2C (KMT2C) is a gene that encodes a nuclear protein that functions in histone methylation and transcriptional coactivation. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as biliary tract cancer, intestinal cancer, and skin cancer.
KMT2C is altered in 5.66% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, prostate adenocarcinoma, colon adenocarcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].
The most common alterations in KMT2C are KMT2C Mutation (5.20%), KMT2C Amplification (0.18%), KMT2C Loss (0.07%), KMT2C A779T (0.47%), and KMT2C X2481_splice (0.03%) [3].
Clinical Trials
Significance of KMT2C 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.