Associated Genetic Biomarkers

Overview

Gene Location [1]
4q24
Pathway
Chromatin remodeling/DNA methylation
Variant Type
Substitution - Missense
Gene
TET2

TET2 c.3310-c.4434 Missense is present in 0.80% of AACR GENIE cases, with acute myeloid leukemia, lung adenocarcinoma, colon adenocarcinoma, myelodysplastic syndromes, and cutaneous melanoma having the greatest prevalence [4].

Top Disease Cases with TET2 c.3310-c.4434 Missense

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.