Associated Genetic Biomarkers


Gene Location [1]
JAK/STAT signaling

JAK2 Mutation is present in 1.66% of AACR GENIE cases, with lung adenocarcinoma, myelofibrosis, colon adenocarcinoma, acute myeloid leukemia, and bladder urothelial carcinoma having the greatest prevalence [4].

Top Disease Cases with JAK2 Mutation

Significance of JAK2 Mutation in Diseases

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

B-Cell Acute Lymphoblastic Leukemia +

Mantle Cell Lymphoma +

Multiple Myeloma +

Peripheral T-Cell Lymphoma +

Secondary Acute Myeloid Leukemia +

Myelofibrosis +

Malignant Solid Tumor +

Lymphoproliferative Disorder +

Non-Hodgkin Lymphoma +

B-Cell Lymphoblastic Leukemia/Lymphoma +

Chronic Lymphocytic Leukemia +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Diffuse Large B-Cell Lymphoma +

Double-Hit Lymphoma +

Lymphoplasmacytic Lymphoma +

Mixed Phenotype Acute Leukemia +

Plasma Cell Leukemia +

Primary Cutaneous T Cell Non-Hodgkin Lymphoma +

Splenic Marginal Zone Lymphoma +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

Waldenstrom Macroglobulinemia +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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.