Overview

Gene Location [1]
22q12.2
Gene
NF2

NF2 Mutation is present in 1.22% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, meningioma, and endometrial endometrioid adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with NF2 Mutation

Significance of NF2 Mutation in Diseases

Schwannoma +

Meningioma +

Malignant Solid Tumor +

Malignant Pleural Mesothelioma +

Malignant Mesothelioma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Melanoma +

Bladder Carcinoma +

Ovarian Carcinoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Low Grade Glioma +

Cancer +

Glioblastoma +

Diffuse Glioma +

Astrocytic Tumor +

Sarcoma +

Head And Neck Carcinoma +

Poorly Differentiated Thyroid Gland Carcinoma +

Pancreatic Carcinoma +

Breast Carcinoma +

Lymphoma +

Anaplastic Astrocytoma +

B-Cell Non-Hodgkin Lymphoma +

Dysembryoplastic Neuroepithelial Tumor +

Gangliocytoma +

Ganglioglioma +

Low-Grade Neuroepithelial Tumor, NOS +

Multiple Myeloma +

Neurofibromatosis Type 2 +

Neuronal And Mixed Neuronal-Glial Tumors +

Peritoneal Malignant Mesothelioma +

Pilocytic Astrocytoma +

Pilomyxoid Astrocytoma +

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.