Associated Genetic Biomarkers


Gene Location [1]

NF2 Mutation is present in 1.48% of AACR GENIE cases, with meningioma, lung adenocarcinoma, colon adenocarcinoma, pleural epithelioid mesothelioma, and bladder urothelial carcinoma 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 +

Bladder Carcinoma +

Melanoma +

Ovarian Carcinoma +

Cancer +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Sarcoma +

Glioblastoma +

Pancreatic Carcinoma +

Breast Carcinoma +

Anaplastic Astrocytoma +

B-Cell Non-Hodgkin Lymphoma +

Head And Neck Carcinoma +

Lymphoma +

Multiple Myeloma +

Neurofibromatosis Type 2 +

Peritoneal Malignant Mesothelioma +

Poorly Differentiated Thyroid Gland Carcinoma +


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.