Overview

Location [1]
7q36.1
Protein [2]
Histone-lysine N-methyltransferase 2C
Synonyms [1]
HALR, KLEFS2, MLL3

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 5.85% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, prostate adenocarcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

KMT2C GENIE Cases - Top Diseases

The most common alterations in KMT2C are KMT2C Mutation (4.34%), KMT2C Amplification (0.15%), KMT2C F4496Lfs*21 (0.04%), KMT2C Loss (0.04%), and KMT2C S2816Ifs*6 (0.02%) [3].

KMT2C GENIE Cases - Top Alterations

Significance of KMT2C in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Anaplastic Oligodendroglioma +

Malignant Glioma +

Glioblastoma +

Diffuse Glioma +

Anaplastic Astrocytoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

High-Grade Glioma, NOS +

Pineoblastoma +

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 6. 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.