Associated Genetic Biomarkers


Gene Location [1]
Variant Type

MYCN Amplification is present in 0.37% of AACR GENIE cases, with neuroblastoma, conventional glioblastoma multiforme, bladder urothelial carcinoma, breast invasive ductal carcinoma, and anaplastic astrocytoma having the greatest prevalence [4].

Top Disease Cases with MYCN Amplification

Significance of MYCN Amplification in Diseases

Neuroblastoma +

Medulloblastoma +

Malignant Solid Tumor +

Medulloblastoma, Non-WNT/Non-SHH +

Soft Tissue Sarcoma +

Desmoplastic Small Round Cell Tumor +

Ependymoma +

Malignant Glioma +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Ganglioneuroblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Melanoma +

Osteosarcoma +

Anaplastic Astrocytoma +

Glioblastoma +

Diffuse Glioma +

Glioma +

Central Nervous System Neoplasm +

Germ Cell Tumor +

Alveolar Rhabdomyosarcoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Central Nervous System Lymphoma +

Childhood Central Nervous System Embryonal Carcinoma +

Choroid Plexus Neoplasm +

Craniopharyngioma +

Diffuse Intrinsic Pontine Glioma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Dysembryoplastic Neuroepithelial Tumor +

Embryonal Rhabdomyosarcoma +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma, RELA Fusion-Positive +

Ewing Sarcoma +

Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor Of Bone +

Fibrosarcoma +

Ganglioneuroblastoma, Intermixed +

Ganglioneuroblastoma, Nodular +

High-Grade Glioma, NOS +

Intracranial Primitive Neuroectodermal Neoplasm +

Kidney Wilms Tumor +

Leiomyosarcoma +

Liposarcoma +

Lymphoma +

Meningioma +

NUT Midline Carcinoma Of The Head And Neck +

Neuroectodermal Tumor Of Soft Tissue +

Pineoblastoma +

Retinoblastoma +

Rhabdoid Tumor +

Small Cell Lung Carcinoma +

Spindle Cell Sarcoma +

Synovial Sarcoma +

Undifferentiated Pleomorphic Sarcoma +

Wilms Tumor +


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.