Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Location [1]
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Neurofibromin truncated
Synonyms [1]

Neurofibromin 1 (NF1) is a gene that codes for neurofibromin, a tumor suppressor protein (Genetics Home Reference 2014). NF1 suppresses the function of the Ras protein, which promotes cell growth and differentiation (Genetics Home Reference 2014PMID: 25026295). In cancer, the tumor suppression function of the gene is impaired, leading to conditions favorable for uncontrolled cell growth. NF1 mutations have been observed in multiple cancer types, including myelodysplastic syndromes.

In addition, NF1 syndrome is a germline condition resulting in predisposition to several types of cancer, in addition to other effects (PMID: 25026295). Cancer types associated with NF1 syndrome include glioma, melanoma, lung cancer, ovarian cancer, breast cancer, colorectal cancer, hematologic malignancies, and other cancers (PMID: 25026295).

NF1 is altered in 6.60% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, conventional glioblastoma multiforme, cutaneous melanoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

NF1 GENIE Cases - Top Diseases

The most common alterations in NF1 are NF1 Mutation (4.52%), NF1 Nonsense (1.77%), NF1 Loss (0.34%), NF1 Amplification (0.15%), and NF1 R2450* (0.10%) [3].

NF1 GENIE Cases - Top Alterations

Significance of NF1 in Diseases

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Neurofibroma +

Neurofibromatosis Type 1 +

Melanoma +

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 +

Mucosal Melanoma +

Dysembryoplastic Neuroepithelial Tumor +

Pilomyxoid Astrocytoma +

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 +

Poorly Differentiated Thyroid Gland Carcinoma +

Rhabdoid Tumor +

Sarcoma +

Head And Neck Carcinoma +

Soft Tissue Sarcoma +

Hepatocellular Carcinoma +

Malignant Brain Neoplasm +

Renal Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Schwannoma +

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 +

Therapy-Related Myelodysplastic Syndrome +


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. 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.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.