Associated Genetic Biomarkers


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

NF1 Mutation is present in 4.88% of AACR GENIE cases, with lung adenocarcinoma, breast invasive ductal carcinoma, conventional glioblastoma multiforme, cutaneous melanoma, and colon adenocarcinoma 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 +

Neurofibromatosis Type 1 +

Neurofibroma +

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.

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 6. 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.