A panoply of errors: polymerase proofreading domain mutations in cancer

@article{Rayner2016APO,
  title={A panoply of errors: polymerase proofreading domain mutations in cancer},
  author={Emily Rayner and Inge C. van Gool and Claire Palles and Stephen E. Kearsey and Tjalling Bosse and Ian Tomlinson and David N Church},
  journal={Nature Reviews Cancer},
  year={2016},
  volume={16},
  pages={71-81}
}
Although it has long been recognized that the exonucleolytic proofreading activity intrinsic to the replicative DNA polymerases Pol δ and Pol ε is essential for faithful replication of DNA, evidence that defective DNA polymerase proofreading contributes to human malignancy has been limited. However, recent studies have shown that germline mutations in the proofreading domains of Pol δ and Pol ε predispose to cancer, and that somatic Pol ε proofreading domain mutations occur in multiple sporadic… CONTINUE READING

Figures, Tables, and Topics from this paper.

Explore Further: Topics Discussed in This Paper

Citations

Publications citing this paper.
SHOWING 1-10 OF 62 CITATIONS, ESTIMATED 38% COVERAGE

Characterization of a novel POLD1 missense founder mutation in a Spanish population.

  • The journal of gene medicine
  • 2017
VIEW 3 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Cryo-EM structure and dynamics of eukaryotic DNA polymerase δ holoenzyme

Rinku Jain, William J. Rice, +5 authors Aneel K. Aggarwal
  • Nature Structural & Molecular Biology
  • 2019

FILTER CITATIONS BY YEAR

2016
2019

CITATION STATISTICS

  • 5 Highly Influenced Citations

  • Averaged 18 Citations per year from 2017 through 2019

References

Publications referenced by this paper.
SHOWING 1-10 OF 124 REFERENCES

DNA replication fidelity.

  • Annual review of biochemistry
  • 2000
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

Association of polymerase e-mutated and microsatellite-instable endometrial cancers with neoantigen load, number of tumor-infiltrating lymphocytes, and expression of PD-1 and PD-L1

Howitt, E B.
  • JAMA Oncol
  • 2015

Cancer immunology. Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer

Rizvi, A N.
  • Science 348,
  • 2015