Overview

Location [1]
17q11.2
Pathway
Receptor tyrosine kinase/growth factor signaling
Synonyms [1]
NFNS, WSS, VRNF

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).

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 +

Acute Myeloid Leukemia +

Breast Carcinoma +

Chronic Myelomonocytic Leukemia +

Colorectal Carcinoma +

Myelodysplastic Syndromes +

Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Multiple Myeloma +

Optic Nerve Glioma +

Pancreatic Carcinoma +

Pilocytic Astrocytoma +

Thyroid Gland Carcinoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Anaplastic Astrocytoma +

Astrocytic Tumor +

B-Cell Non-Hodgkin Lymphoma +

Bladder Carcinoma +

Cancer +

Cutaneous Melanoma +

Diffuse Glioma +

Dysembryoplastic Neuroepithelial Tumor +

Embryonal Rhabdomyosarcoma +

Endometrial Carcinoma +

Gangliocytoma +

Ganglioglioma +

Gastrointestinal Stromal Tumor +

Glioblastoma +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

Juvenile Myelomonocytic Leukemia +

Low-Grade Neuroepithelial Tumor, NOS +

Lymphoma +

Malignant Brain Neoplasm +

Malignant Female Reproductive System Neoplasm +

Malignant Glioma +

Mucosal Melanoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Neuroblastoma +

Neurofibromatosis +

Neurofibromatosis Type 1 With Plexiform Neurofibromas +

Neuronal And Mixed Neuronal-Glial Tumors +

Pilomyxoid Astrocytoma +

Poorly Differentiated Thyroid Gland Carcinoma +

Renal Cell Carcinoma +

Rhabdoid Tumor +

Sarcoma +

Schwannoma +

Secondary Acute Myeloid Leukemia +

Soft Tissue Sarcoma +

Solid Neoplasm +

Squamous Cell Lung Carcinoma +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

References

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 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.