Overview

Pericentriolar material 1 (PCM1) is a gene that encodes a protein that functions as a component of centriolar satellites. The protein is important for the correct localization of centrosomal proteins and anchoring microtubules to the centrosome. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and pituitary cancer.

PCM1 is altered in 0.18% of all cancers with lung adenocarcinoma, squamous cell lung carcinoma, adenocarcinoma of unknown primary, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

The most common alterations in PCM1 are PCM1 N159S (9.33%), PCM1-JAK2 Fusion (0.10%), PCM1-RET Fusion (0.10%), PCM1 N485S (0.26%), and PCM1 S1765C (0.26%) [3].

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.