Gene Location [1]
Chromatin remodeling/DNA methylation
Variant Type

KMT2D Loss is present in 0.07% of AACR GENIE cases, with salivary gland adenoid cystic carcinoma, mantle cell lymphoma, breast invasive ductal carcinoma, follicular lymphoma, and pancreatic adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with KMT2D Loss

Significance of KMT2D Loss in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Bladder Carcinoma +

Lymphoma +

Head And Neck Carcinoma +

Anaplastic Astrocytoma +

Glioblastoma +

Pancreatic Carcinoma +

Melanoma +

Soft Tissue Sarcoma +

Sarcoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Epithelioid Sarcoma +

Malignant Ovarian Clear Cell Tumor +

Malignant Ovarian Endometrioid Tumor +

Ovarian Carcinoma +

Rhabdoid Tumor +

Sarcomatoid Carcinoma +

Synovial Sarcoma +


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 8. 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.