Overview

Gene Location [1]
12q13.12
Pathway
Chromatin remodeling/DNA methylation
Gene
KMT2D

KMT2D Mutation is present in 8.35% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with KMT2D Mutation

Significance of KMT2D Mutation in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Central Nervous System Embryonal Neoplasm +

Malignant Solid Tumor +

Glioblastoma +

Anaplastic Astrocytoma +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Medulloblastoma, SHH-Activated +

Medulloepithelioma +

Bladder Carcinoma +

Lymphoma +

Melanoma +

Esophageal Squamous Cell Carcinoma +

Anaplastic Oligodendroglioma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Gastric Adenocarcinoma +

Esophageal Adenocarcinoma +

Ovarian Carcinoma +

Malignant Glioma +

Diffuse Glioma +

Breast Carcinoma +

Sarcoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

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

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Desmoplastic/Nodular Medulloblastoma +

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 +

Gastric Squamous Cell Carcinoma +

Head And Neck Carcinoma +

High-Grade Glioma, NOS +

Intracranial Primitive Neuroectodermal Neoplasm +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, WNT-Activated +

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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.