Gene Location [1]
Variant Type

NF2 Loss is present in 0.15% of AACR GENIE cases, with high grade ovarian serous adenocarcinoma, conventional glioblastoma multiforme, pleural epithelioid mesothelioma, peritoneal mesothelioma, and sarcoma, NOS having the greatest prevalence [4].

Top Disease Cases with NF2 Loss

Significance of NF2 Loss in Diseases

Schwannoma +

Meningioma +

Malignant Solid Tumor +

Malignant Pleural Mesothelioma +

Malignant Mesothelioma +

Poorly Differentiated Thyroid Gland Carcinoma +

Sarcoma +

Ovarian Carcinoma +

Melanoma +

Anaplastic Astrocytoma +

Low Grade Glioma +

Glioblastoma +

Astrocytic Tumor +

Diffuse Glioma +

Cancer +

Breast Carcinoma +

Head And Neck Carcinoma +

Lymphoma +

Non-Small Cell Lung Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Dysembryoplastic Neuroepithelial Tumor +

Gangliocytoma +

Ganglioglioma +

Low-Grade Neuroepithelial Tumor, NOS +

Multiple Myeloma +

Neurofibromatosis Type 2 +

Neuronal And Mixed Neuronal-Glial Tumors +

Pancreatic Carcinoma +

Peritoneal Malignant Mesothelioma +

Pilocytic Astrocytoma +

Pilomyxoid Astrocytoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +


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.