Overview

Location [1]
9q22.32
Pathway
Hedgehog signaling
Protein [2]
Protein patched homolog 1
Synonyms [1]
NBCCS, PTCH, PTC, BCNS, PTC1

Patched 1 (PTCH1) is a gene that encodes a protein that belongs to the patched gene family. The protein functions as a receptor protein for sonic hedgehog, desert hedgehog, and indian hedgehog proteins. Fusions, missense mutations, nonsense mutations, silent mutations, whole gene deletions, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as bone cancer, skin cancer, and vulvar cancer.

PTCH1 is altered in 2.43% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

PTCH1 GENIE Cases - Top Diseases

The most common alterations in PTCH1 are PTCH1 Mutation (2.73%), PTCH1 Missense (2.17%), PTCH1 Frameshift (0.46%), PTCH1 Nonsense (0.17%), and PTCH1 S1203Afs*52 (0.15%) [3].

PTCH1 GENIE Cases - Top Alterations

Significance of PTCH1 in Diseases

Medulloblastoma +

Malignant Solid Tumor +

Medulloblastoma, Non-WNT/Non-SHH +

Basal Cell Carcinoma +

Central Nervous System Embryonal Neoplasm +

Melanoma +

Glioblastoma +

Anaplastic Astrocytoma +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Breast Carcinoma +

Pancreatic Carcinoma +

Lymphoma +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Multiple Myeloma +

Anaplastic Oligodendroglioma +

Colorectal Carcinoma +

Malignant Glioma +

Diffuse Glioma +

B-Cell Non-Hodgkin Lymphoma +

Sarcoma +

Ovarian Carcinoma +

Malignant Salivary Gland Neoplasm +

Biliary Tract Carcinoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

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

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Head And Neck Carcinoma +

High-Grade Glioma, NOS +

Intracranial Primitive Neuroectodermal Neoplasm +

Pineoblastoma +

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 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.