Overview

Gene Location [1]
15q22.31
Pathway
MAP kinase signaling
Gene
MAP2K1

MAP2K1 Mutation is present in 0.94% of AACR GENIE cases, with cutaneous melanoma, lung adenocarcinoma, colon adenocarcinoma, melanoma, and bladder urothelial carcinoma having the greatest prevalence [4].

Top Disease Cases with MAP2K1 Mutation

Significance of MAP2K1 Mutation in Diseases

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Histiocytic And Dendritic Cell Neoplasm +

Colorectal Carcinoma +

Glioma +

Low Grade Glioma +

Thyroid Gland Carcinoma +

Ovarian Carcinoma +

Cutaneous Melanoma +

Ganglioglioma +

Neuronal And Mixed Neuronal-Glial Tumors +

Endometrial Carcinoma +

Cancer +

Esophageal Carcinoma +

Diffuse Glioma +

Gastric Carcinoma +

Astrocytic Tumor +

Mucosal Melanoma +

Pilocytic Astrocytoma +

Squamous Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Cholangiocarcinoma +

Multiple Myeloma +

Breast Carcinoma +

Renal Cell Carcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Acute Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Dysembryoplastic Neuroepithelial Tumor +

Embryonal Rhabdomyosarcoma +

Gangliocytoma +

Low-Grade Neuroepithelial Tumor, NOS +

Malignant Peripheral Nerve Sheath Tumor +

Myelodysplastic Syndromes +

Neuroblastoma +

Neurofibromatosis Type 1 +

Pilomyxoid Astrocytoma +

Poorly Differentiated Thyroid Gland Carcinoma +

Rhabdoid Tumor +

Schwannoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

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.