Overview

Gene Location [1]
2p23.3
Pathway
Chromatin remodeling/DNA methylation
Gene
DNMT3A

DNMT3A Mutation is present in 2.95% of AACR GENIE cases, with lung adenocarcinoma, acute myeloid leukemia, colon adenocarcinoma, myelodysplastic syndromes, and breast invasive ductal carcinoma having the greatest prevalence [4].

Top Disease Cases with DNMT3A Mutation

Significance of DNMT3A Mutation in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Chronic Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Multiple Myeloma +

Melanoma +

Lymphoma +

Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Glioblastoma +

Colorectal Carcinoma +

Anaplastic Astrocytoma +

Malignant Solid Tumor +

Hodgkin Lymphoma +

Head And Neck Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Sarcoma +

Pancreatic Carcinoma +

Aplastic Anemia +

Lymphoblastic Lymphoma +

Therapy-Related Chronic Myelomonocytic Leukemia +

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 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.