Biomarkers /
DNMT3A
Overview
DNMT3A (DNA (cytosine-5-)-methyltransferase 3 alpha) gene encodes the DNA (cytosine-5)-methyltransferase 3A protein, which is involved in epigenetic gene regulation (Gene 2013; PMID: 17938196). DNMT3A is most frequently mutated in hematologic malignancies, but it has also been observed in other cancers, including lung cancer (PMID: 23031157).
DNMT3A is altered in 3.61% of all cancers with lung adenocarcinoma, acute myeloid leukemia, myelodysplastic syndromes, colon adenocarcinoma, and unknown having the greatest prevalence of alterations [3].
The most common alterations in DNMT3A are DNMT3A Mutation (2.95%), DNMT3A R882H (0.41%), DNMT3A Nonsense (0.38%), DNMT3A R882C (0.21%), and DNMT3A Loss (0.08%) [3].
Clinical Trials
Significance of DNMT3A 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.