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 6.78% of all cancers with non-small cell lung carcinoma, breast carcinoma, melanoma, malignant glioma, and colorectal adenocarcinoma having the greatest prevalence of alterations [3].

NF1 GENIE Cases - Top Diseases

The most common alterations in NF1 are NF1 Mutation (6.15%), NF1 Mutation (germline) (6.15%), NF1 Nonsense (1.96%), NF1 Frameshift (1.39%), and NF1 Loss (0.36%) [3].

NF1 GENIE Cases - Top Alterations

Significance of NF1 in Diseases

Malignant Solid Tumor +

Neurofibroma +

Glioma +

Neurofibromatosis Type 1 +

Non-Small Cell Lung Carcinoma +

Malignant Peripheral Nerve Sheath Tumor +

Melanoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Multiple Myeloma +

Breast Carcinoma +

Ovarian Carcinoma +

Neuroblastoma +

Lymphoma +

Pancreatic Carcinoma +

Plexiform Neurofibroma +

Chronic Myelomonocytic Leukemia +

Glioblastoma +

Anaplastic Astrocytoma +

Squamous Cell Lung Carcinoma +

Endometrial Carcinoma +

Cancer +

Bladder Carcinoma +

Rhabdomyosarcoma +

Acute Myeloid Leukemia +

Thyroid Gland Carcinoma +

Myelodysplastic Syndromes +

Malignant Brain Neoplasm +

Gastrointestinal Stromal Tumor +

Sarcoma +

Head And Neck Carcinoma +

Soft Tissue Sarcoma +

B-Cell Non-Hodgkin Lymphoma +

Renal Cell Carcinoma +

Solid Neoplasm +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Optic Nerve Glioma +

Pancreatic Ductal Adenocarcinoma +

Rhabdoid Tumor +

Schwannoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. 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.