mismatch repair endonuclease pms2


Summary: A MutL protein and component of the DNA MISMATCH REPAIR system. Its ENDONUCLEASE activity introduces SINGLE-STRAND DNA BREAKS which create entry points for EXO1 exonuclease to remove the strand containing the mismatch. It may also function in DNA DAMAGE signaling.

Top Publications

  1. Clendenning M, Macrae F, Walsh M, Walters R, Thibodeau S, Gunawardena S, et al. Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression. Clin Genet. 2013;83:591-3 pubmed publisher
  2. Ramchander N, Ryan N, Crosbie E, Evans D. Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD). BMC Med Genet. 2017;18:40 pubmed publisher
    ..Microsatellite instability status appears to be of little value in identifying patients who may have constitutional mismatch repair deficiency syndrome. ..
  3. Couch F, Shimelis H, Hu C, Hart S, Polley E, Na J, et al. Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017;3:1190-1196 pubmed publisher
  4. Chalmers Z, Connelly C, Fabrizio D, Gay L, Ali S, Ennis R, et al. Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. Genome Med. 2017;9:34 pubmed publisher
    ..Finally, we identify novel, recurrent promoter mutations in PMS2, which may be another example of regulatory mutations contributing to tumorigenesis. ..
  5. Manhart C, Ni X, White M, Ortega J, Surtees J, Alani E. The mismatch repair and meiotic recombination endonuclease Mlh1-Mlh3 is activated by polymer formation and can cleave DNA substrates in trans. PLoS Biol. 2017;15:e2001164 pubmed publisher
    ..Together these observations argue that Mlh1-Mlh3 may not act like a canonical, RuvC-like Holliday junction resolvase and support a novel model in which Mlh1-Mlh3 is loaded onto DNA to form an activated polymer that cleaves DNA. ..
  6. Kastrinos F, Uno H, Ukaegbu C, Alvero C, McFarland A, Yurgelun M, et al. Development and Validation of the PREMM5 Model for Comprehensive Risk Assessment of Lynch Syndrome. J Clin Oncol. 2017;35:2165-2172 pubmed publisher
    ..At this threshold, PREMM5 provides performance that is superior to the existing PREMM1,2,6 model in the identification of carriers of LS, including those with weaker phenotypes and individuals unaffected by cancer. ..
  7. Espenschied C, Laduca H, Li S, McFarland R, Gau C, Hampel H. Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. J Clin Oncol. 2017;35:2568-2575 pubmed publisher
    ..These data also highlight the limitations of current testing criteria in identifying these patients, as well as the need for further investigation of cancer risks in patients with MMR mutations. ..
  8. Ricker C, Hanna D, Peng C, Nguyen N, Stern M, Schmit S, et al. DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. Cancer. 2017;123:3732-3743 pubmed publisher
    ..Cancer 2017. © 2017 The Authors. Cancer published by Wiley Periodicals, Inc. on behalf of American Cancer Society. Cancer 2017;123:3732-3743. © 2017 American Cancer Society. ..
  9. Hashmi A, Ali R, Hussain Z, Faridi N, Khan E, Bakar S, et al. Mismatch repair deficiency screening in colorectal carcinoma by a four-antibody immunohistochemical panel in Pakistani population and its correlation with histopathological parameters. World J Surg Oncol. 2017;15:116 pubmed publisher
    ..Moreover, right-sided location and intra-tumoral lymphocyte count may be used to identify patients who may need further workup. ..

More Information


  1. Andrianova M, Chetan G, Sibin M, McKee T, Merkler D, Narasinga R, et al. Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours. J Pathol. 2017;243:331-341 pubmed publisher
    ..Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. ..
  2. Cheyuo C, Radwan W, Ahn J, Gyure K, Qaiser R, Tomboc P. Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature. J Pediatr Hematol Oncol. 2017;39:e381-e387 pubmed publisher
    ..This report is the first to allude to a possible interaction of the mismatch repair system with DICER1 to cause corpus callosum agenesis. ..
  3. Li P, Xiao Z, Braciak T, Ou Q, Chen G, Oduncu F. Systematic immunohistochemical screening for mismatch repair and ERCC1 gene expression from colorectal cancers in China: Clinicopathological characteristics and effects on survival. PLoS ONE. 2017;12:e0181615 pubmed publisher
    ..We also found the determination of ERCC1 expression to be useful for predicting DFS or OS for stage II and III CRC patients. In addition, the expression of MMR genes and ERCC1 showed a significant relationship. ..