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 5.43% 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 (6.15%), NF1 Nonsense (1.96%), NF1 Frameshift (1.39%), NF1 Loss (0.36%), and NF1 Amplification (0.19%) [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 +

Malignant Peripheral Nerve Sheath Tumor +

Low Grade Glioma +

Plexiform Neurofibroma +

Ovarian Carcinoma +

Non-Hodgkin Lymphoma +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Colorectal Carcinoma +

Breast Carcinoma +

Neuroblastoma +

Pancreatic Carcinoma +

Chronic Myelomonocytic Leukemia +

Histiocytic And Dendritic Cell Neoplasm +

Multiple Myeloma +

Optic Nerve Glioma +

Cutaneous Melanoma +

Glioblastoma +

Malignant Glioma +

Embryonal Rhabdomyosarcoma +

Anaplastic Astrocytoma +

Squamous Cell Lung Carcinoma +

Endometrial Carcinoma +

Bladder Carcinoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Pilocytic Astrocytoma +

Cancer +

Solid Neoplasm +

Poorly Differentiated Thyroid Gland Carcinoma +

Soft Tissue Sarcoma +

Sarcoma +

Gastrointestinal Stromal Tumor +

Thyroid Gland Carcinoma +

Renal Cell Carcinoma +

Hepatocellular Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Lymphoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Head And Neck Carcinoma +

Malignant Brain Neoplasm +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Neurofibromatosis +

Neurofibromatosis Type 1 With Plexiform Neurofibromas +

Rhabdoid Tumor +

Schwannoma +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

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. 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.

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