Gene Location [1]
Receptor tyrosine kinase/growth factor signaling

NF1 Mutation is present in 4.52% of AACR GENIE cases, with lung adenocarcinoma, cutaneous melanoma, breast invasive ductal carcinoma, colon adenocarcinoma, and conventional glioblastoma multiforme having the greatest prevalence [4].

Top Disease Cases with NF1 Mutation

Significance of NF1 Mutation in Diseases

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Melanoma +

Neurofibromatosis Type 1 +

Neurofibroma +

Glioma +

Low Grade Glioma +

Malignant Peripheral Nerve Sheath Tumor +

Plexiform Neurofibroma +

Colorectal Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Acute Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Non-Hodgkin Lymphoma +

Myelodysplastic Syndromes +

Pilocytic Astrocytoma +

Thyroid Gland Carcinoma +

Pancreatic Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Multiple Myeloma +

Optic Nerve Glioma +

Cutaneous Melanoma +

Dysembryoplastic Neuroepithelial Tumor +

Mucosal Melanoma +

Glioblastoma +

Embryonal Rhabdomyosarcoma +

Malignant Glioma +

Astrocytic Tumor +

Diffuse Glioma +

Endometrial Carcinoma +

Squamous Cell Lung Carcinoma +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Anaplastic Astrocytoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Bladder Carcinoma +

Neuronal And Mixed Neuronal-Glial Tumors +

Malignant Female Reproductive System Neoplasm +

Solid Neoplasm +

Cancer +

Ganglioglioma +

Rhabdoid Tumor +

Sarcoma +

Head And Neck Carcinoma +

Soft Tissue Sarcoma +

Hepatocellular Carcinoma +

Malignant Brain Neoplasm +

Renal Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Poorly Differentiated Thyroid Gland Carcinoma +

Lymphoma +

Neuroblastoma +

B-Cell Non-Hodgkin Lymphoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Gangliocytoma +

Juvenile Myelomonocytic Leukemia +

Low-Grade Neuroepithelial Tumor, NOS +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Neurofibromatosis +

Neurofibromatosis Type 1 With Plexiform Neurofibromas +

Pilomyxoid Astrocytoma +

Schwannoma +

Therapy-Related Myelodysplastic Syndrome +


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.