Biomarkers /
PTCH1
Overview
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 2.76% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, cutaneous melanoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].
The most common alterations in PTCH1 are PTCH1 Mutation (2.20%), PTCH1 Missense (2.03%), PTCH1 Nonsense (0.18%), PTCH1 Loss (0.09%), and PTCH1 Amplification (0.06%) [3].
Clinical Trials
Significance of PTCH1 in Diseases
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.