Overview

Protease, serine, 8 (PRSS8) is a gene that encodes a protein that functions as a trypsinogen - member of the trypsin family of serine proteases. The protein activates epithelial sodium channel (ENaC) via cleavage of the gamma subunits. Missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame insertions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

PRSS8 is altered in 1.21% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, melanoma, and melanoma of unknown primary having the greatest prevalence of alterations [3].

The most common alterations in PRSS8 are PRSS8 Amplification (0.44%), PRSS8 D302N (0.13%), PRSS8 R25W (0.11%), PRSS8 A160T (0.12%), and PRSS8 A16T (0.10%) [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.