Biomarkers /
PMS2
Overview
PMS2 postmeiotic segregation increased 2 (PMS2) is a gene that encodes a protein that functions in DNA mismatch repair. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.
PMS2 is altered in 1.56% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].
The most common alterations in PMS2 are PMS2 Mutation (1.12%), PMS2 Amplification (0.28%), PMS2 Loss (0.03%), PMS2 S46I (0.07%), and PMS2 K651R (0.10%) [3].
Biomarker-Directed Therapies
Clinical Trials
Significance of PMS2 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.