Overview

Gene Location [1]
9q22.32
Pathway
Hedgehog signaling
Gene
PTCH1

AACR GENIE data is not categorized as somatic or germline. To see GENIE data for this alteration, click here.

Significance of PTCH1 Mutation (somatic) in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Desmoplastic/Nodular Medulloblastoma +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Pineoblastoma +

Anaplastic Pleomorphic Xanthoastrocytoma +

Anaplastic Oligodendroglioma +

Anaplastic Ependymoma +

High-Grade Glioma, NOS +

Malignant Glioma +

Glioblastoma +

Diffuse Glioma +

Anaplastic Astrocytoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Anaplastic Astrocytoma, IDH-Mutant +

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

Atypical Teratoid/Rhabdoid Tumor +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Intracranial Primitive Neuroectodermal Neoplasm +

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. 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 8. 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.