A panoply of errors: polymerase proofreading domain mutations in cancer

E Rayner, IC Van Gool, C Palles, SE Kearsey… - Nature Reviews …, 2016 - nature.com
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 …

POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies

E Nicolas, EA Golemis, S Arora - Gene, 2016 - Elsevier
The evolutionarily conserved human polymerase delta (POLD1) gene encodes the large
p125 subunit which provides the essential catalytic activities of polymerase δ (Polδ) …

Prognostic Significance of POLE Proofreading Mutations in Endometrial Cancer

DN Church, E Stelloo, RA Nout… - Journal of the …, 2015 - academic.oup.com
Background: Current risk stratification in endometrial cancer (EC) results in frequent over-
and underuse of adjuvant therapy, and may be improved by novel biomarkers. We …

Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice

A Uchimura, M Higuchi, Y Minakuchi, M Ohno… - Genome …, 2015 - genome.cshlp.org
The germline mutation rate is an important parameter that affects the amount of genetic
variation and the rate of evolution. However, neither the rate of germline mutations in …

[HTML][HTML] Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair

NJ Haradhvala, J Kim, YE Maruvka, P Polak… - Nature …, 2018 - nature.com
Fidelity of DNA replication is maintained using polymerase proofreading and the mismatch
repair pathway. Tumors with loss of function of either mechanism have elevated mutation …

Human cancers express a mutator phenotype: hypothesis, origin, and consequences

LA Loeb - Cancer research, 2016 - AACR
The mutator phenotype hypothesis was postulated more than 40 years ago. It was based on
the multiple enzymatic steps required to precisely replicate the 6 billion bases in the human …

POLE proofreading defects: Contributions to mutagenesis and cancer

VS Park, ZF Pursell - DNA repair, 2019 - Elsevier
DNA polymerases are uniquely poised to contribute to the elevated mutation burdens seen
in many human tumors. These mutations can arise through a number of different polymerase …

How asymmetric DNA replication achieves symmetrical fidelity

ZX Zhou, SA Lujan, AB Burkholder… - Nature structural & …, 2021 - nature.com
Accurate DNA replication of an undamaged template depends on polymerase selectivity for
matched nucleotides, exonucleolytic proofreading of mismatches, and removal of remaining …

[PDF][PDF] Replication DNA polymerases, genome instability and cancer therapies

JD Strauss, ZF Pursell - NAR cancer, 2023 - academic.oup.com
It has been over a decade since the initial identification of exonuclease domain mutations in
the genes encoding the catalytic subunits of replication DNA polymerases ϵ and δ (POLE …

[HTML][HTML] A PoleP286R mouse model of endometrial cancer recapitulates high mutational burden and immunotherapy response

HD Li, C Lu, H Zhang, Q Hu, J Zhang, IC Cuevas… - JCI insight, 2020 - ncbi.nlm.nih.gov
Cancer is instigated by mutator phenotypes, including deficient mismatch repair and p53-
associated chromosomal instability. More recently, a distinct class of cancers was identified …